A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229582



Internal ID22371387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24050693..24063947hg38UCSC Ensembl
Outerchr6:24050921..24064175hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275466, nssv14275463, nssv14275464, nssv14275465, nssv14275467
SamplesNA19238, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229582
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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