A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215763



Internal ID22361980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41241555..41276318hg38UCSC Ensembl
Outerchr17:39397807..39432570hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3834764
hg1934764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260951, nssv14260955, nssv14260956, nssv14260948, nssv14260949, nssv14260954, nssv14260950, nssv14260952, nssv14260953
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215763
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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