A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208824



Internal ID22357002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73852501..73932271hg38UCSC Ensembl
Outerchr6:74562210..74641987hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3879771
hg1979778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275499, nssv14275502, nssv14275503, nssv14275504, nssv14275500, nssv14275501
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208824
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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