A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272496



Internal ID22197708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:26476025..26490551hg38UCSC Ensembl
Outerchr3:26517516..26532042hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381270
hg191270
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219217
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272496
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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