A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214421



Internal ID22361085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69561797..69588851hg38UCSC Ensembl
Outerchr6:70271689..70298743hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382410
hg192410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276955, nssv14276958, nssv14276951, nssv14276954, nssv14276957, nssv14276959, nssv14276952, nssv14276953, nssv14276956
SamplesHG00512, NA19238, NA19239, HG00731, 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)nsv3214421
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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