A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689537



Internal ID113203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81888000..81928128hg38UCSC Ensembl
chr12:82281779..82321907hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3840129
hg1940129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498010
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689537
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000313


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