A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926475



Internal ID18376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240322023..240476047hg38UCSC Ensembl
chr2:241261440..241415464hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38154025
hg19154025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140144
Supporting Variants
Samples
Known GenesGPC1, MIR149, PP14571
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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