A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911176



Internal ID8219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20715775..20716644hg38UCSC Ensembl
chr2:20915535..20916404hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452342
Supporting Variants
Samples
Known GenesC2orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911176
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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