A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216992



Internal ID22362804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24235991..24242322hg38UCSC Ensembl
Outerchr6:24236219..24242550hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278371, nssv14278373, nssv14278374, nssv14278375, nssv14278372
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known GenesDCDC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216992
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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