A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917920



Internal ID12701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109589618..109812809hg38UCSC Ensembl
chr2:110347195..110570386hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38223192
hg19223192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434507
Supporting Variants
Samples
Known GenesRGPD5, RGPD6, SEPT10, SOWAHC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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