A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216865



Internal ID22362716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71413168..71428889hg38UCSC Ensembl
Outerchr15:71705507..71721228hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3815722
hg1915722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258797, nssv14258796, nssv14258794, nssv14258800, nssv14258795, nssv14258798, nssv14258801, nssv14258799
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTHSD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216865
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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