A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214846



Internal ID22361369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105004045..105016443hg38UCSC Ensembl
Outerchr2:105620503..105632901hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265895, nssv14265892, nssv14265893, nssv14265894, nssv14265897, nssv14265896
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214846
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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