A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213918



Internal ID22360718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:23995441..24037830hg38UCSC Ensembl
Outerchr7:24035060..24077449hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3842390
hg1942390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277262, nssv14277258, nssv14277256, nssv14277264, nssv14277259, nssv14277261, nssv14277260, nssv14277263, nssv14277257
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213918
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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