A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215602



Internal ID22361875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47437960..47513062hg38UCSC Ensembl
Outerchr6:47405696..47480798hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg383634
hg193634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276560, nssv14276559, nssv14276563, nssv14276558, nssv14276564, nssv14276565, nssv14276562, nssv14276561
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCD2AP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215602
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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