A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271793



Internal ID22269698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:5088774..5115784hg38UCSC Ensembl
Outerchr3:5130459..5157469hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219684
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271793
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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