A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917846



Internal ID12643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131610398..132007791hg38UCSC Ensembl
chr2:132367971..132765364hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38397394
hg19397394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446307
Supporting Variants
Samples
Known GenesC2orf27A, C2orf27B, LINC01087
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917846
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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