A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238610



Internal ID21686119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60680912..60680912hg38UCSC Ensembl
chr2:60908047..60908047hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718636
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17238610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer