Version 2.78

Answer Description

The manual aggregation and curation of independently reported structural variants from several online resources. These often clinically important variants would not otherwise find their way into a public catalogue of important structural variation. Examples include variants sporadically reported in the scientific literature, or stored in clinically-oriented online resources (e.g., OMIM) or in locus-specific databases (LSDBs).

Answer Lists using this Answer Code

Answer List Answer List Name Externally Defined
LL4048-6 Structural variant analysis method N