A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912591



Internal ID9140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:41845095..41867596hg38UCSC Ensembl
chr2:42072235..42094736hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3822502
hg1922502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437486
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912591
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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