A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271296



Internal ID22132963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193406864..193437474hg38UCSC Ensembl
Outerchr3:193124653..193155263hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3830611
hg1930611
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197571
Supporting Variants
SamplesHG00513
Known GenesATP13A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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