A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276762



Internal ID22140411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:63629170..63712709hg38UCSC Ensembl
Outerchr6:64339075..64422605hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3883540
hg1983531
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208943
Supporting Variants
SamplesHG00513
Known GenesPHF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276762
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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