A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911575



Internal ID8485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40537671..40544882hg38UCSC Ensembl
chr2:40764811..40772022hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg387212
hg197212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442932
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911575
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003592


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