A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912010



Internal ID8759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47131102..47143731hg38UCSC Ensembl
chr2:47358241..47370870hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3812630
hg1912630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433941
Supporting Variants
Samples
Known GenesC2orf61
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912010
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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