A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272500



Internal ID22124463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72548533..72550311hg38UCSC Ensembl
Outerchr3:72597684..72599462hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220735
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272500
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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