A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216613



Internal ID22362554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37931709..37956844hg38UCSC Ensembl
Outerchr4:37933330..37958465hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384135
hg194135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273502, nssv14273501, nssv14273503
SamplesNA19238, HG00513, HG00514
Known GenesTBC1D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216613
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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