A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097646



Internal ID21274935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48614873..48617349hg38UCSC Ensembl
Innerchr17:46692235..46694711hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114308
Supporting Variants
Samplessample214
Known GenesHOXB8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097646
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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