A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215644



Internal ID22361903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145256684..145274535hg38UCSC Ensembl
Outerchr3:144974471..144992322hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg388680
hg198680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271569, nssv14271568, nssv14271571, nssv14271572, nssv14271573, nssv14271570
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215644
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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