A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271573



Internal ID22291082
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215644
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271573
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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