A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223371



Internal ID22367161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43924459..43968317hg38UCSC Ensembl
Outerchr6:43892196..43936054hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382429
hg192429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276523, nssv14276526, nssv14276528, nssv14276525, nssv14276531, nssv14276524, nssv14276527, nssv14276530, nssv14276529
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100132354
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223371
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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