A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17537231



Internal ID21861586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201241483..201241483hg38UCSC Ensembl
chr2:202106206..202106206hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6045847
Supporting Variants
Samples
Known GenesCASP8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17537231
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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