A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210021



Internal ID22358008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:78806122..78823547hg38UCSC Ensembl
Outerchr6:79515839..79533264hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3817426
hg1917426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275513, nssv14275515, nssv14275514, nssv14275516, nssv14275518, nssv14275517, nssv14275519
SamplesNA19238, 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)nsv3210021
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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