A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222512



Internal ID22366570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168225504..168248737hg38UCSC Ensembl
Outerchr6:168626184..168649417hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382811
hg192811
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278262, nssv14278261, nssv14278260, nssv14278263, nssv14278264, nssv14278258, nssv14278259
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222512
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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