A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925274



Internal ID17598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139179812..139181591hg38UCSC Ensembl
chr2:139937382..139939161hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381780
hg191780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445557
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925274
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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