A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229792



Internal ID22371523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110581502..110611253hg38UCSC Ensembl
Outerchr6:110902705..110932456hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384566
hg194566
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277042, nssv14277039, nssv14277043, nssv14277041, nssv14277040, nssv14277038, nssv14277037
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCDK19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229792
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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