A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215012



Internal ID22361481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166004121..166032981hg38UCSC Ensembl
Outerchr6:166417609..166446469hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381495
hg191495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279029, nssv14279028, nssv14279032, nssv14279030, nssv14279033, nssv14279031
SamplesHG00512, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215012
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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