A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923301



Internal ID16296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:193118292..193357073hg38UCSC Ensembl
chr2:193983018..194221798hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38238782
hg19238781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452143
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923301
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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