A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219285



Internal ID22364353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25057211..25087495hg38UCSC Ensembl
Outerchr6:25057439..25087723hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383567
hg193567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275469, nssv14275471, nssv14275473, nssv14275472, nssv14275470, nssv14275474, nssv14275468
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesCMAHP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219285
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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