A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212412



Internal ID22359666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64268852..64299891hg38UCSC Ensembl
Outerchr6:64978745..65009784hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg386813
hg196813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7932n152
Supporting Variantsnssv14276595, nssv14276594, nssv14276592, nssv14276590, nssv14276589, nssv14276588, nssv14276593, nssv14276596, nssv14276591
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212412
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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