A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220320



Internal ID22365049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235167413..235171609hg38UCSC Ensembl
Outerchr2:236076057..236080253hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265190, nssv14265189, nssv14265194, nssv14265191, nssv14266715, nssv14265193, nssv14265188, nssv14265192, nssv14266714
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220320
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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