A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913112



Internal ID9497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53972038..53972335hg38UCSC Ensembl
chr2:54199175..54199472hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442398
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913112
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009681


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