A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260013



Internal ID22294490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6946563..6980793hg38UCSC Ensembl
Outerchr17:6849882..6884112hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3834231
hg1934231
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221614
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260013
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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