A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235846



Internal ID22373410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25726364..25764463hg38UCSC Ensembl
Outerchr15:25971511..26009610hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381875
hg191875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2853n152
Supporting Variantsnssv14258610, nssv14258604, nssv14258605, nssv14258611, nssv14258608, nssv14258606, nssv14258609, nssv14258607
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesATP10A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235846
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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