A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219632



Internal ID22364592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51587335..51622922hg38UCSC Ensembl
Outerchr3:51621351..51656938hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381169
hg191169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270632, nssv14270639, nssv14270636, nssv14270640, nssv14270637, nssv14270634, nssv14270635, nssv14270633, nssv14270638
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRAD54L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219632
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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