A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689581



Internal ID113247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82636113..82644225hg38UCSC Ensembl
chr12:83029892..83038004hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg388113
hg198113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504457
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689581
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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