A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923681



Internal ID16552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201198835..201212184hg38UCSC Ensembl
chr2:202063558..202076907hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3813350
hg1913350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449718
Supporting Variants
Samples
Known GenesCASP10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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