A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229833



Internal ID22371549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168558735..168663663hg38UCSC Ensembl
Outerchr6:168959415..169064343hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385211
hg195211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278273, nssv14278270, nssv14277216, nssv14278274, nssv14278269, nssv14278271, nssv14278272
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSMOC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229833
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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