A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271009



Internal ID22229756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79995389..80020444hg38UCSC Ensembl
Outerchr3:80044539..80069594hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3825056
hg1925056
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199387
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271009
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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