A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922971



Internal ID16069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206088048..206092000hg38UCSC Ensembl
chr2:206952772..206956724hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435329
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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