A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271125



Internal ID22131851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:97765325..97815377hg38UCSC Ensembl
Outerchr3:97484169..97534221hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3850053
hg1950053
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197759
Supporting Variants
SamplesHG00513
Known GenesARL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271125
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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