A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229064



Internal ID22371034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37501409..37513117hg38UCSC Ensembl
Outerchr6:37469185..37480893hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7859n152
Supporting Variantsnssv14276503, nssv14276504, nssv14276505, nssv14276506, nssv14276507
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229064
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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