A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713565



Internal ID137231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48601162..48601287hg38UCSC Ensembl
chr17:46678524..46678649hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530046
Supporting Variants
Samples
Known GenesHOXB6, HOXB-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.021855


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