A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260941



Internal ID22256740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29451612..29466623hg38UCSC Ensembl
Outerchr17:27778630..27793641hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3815012
hg1915012
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229457
Supporting Variants
SamplesNA19238
Known GenesTAOK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260941
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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