A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196438



Internal ID22346445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236366925..236398748hg38UCSC Ensembl
Outerchr1:236530225..236562048hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3831824
hg1931824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282000, nssv14282001, nssv14281993, nssv14281994, nssv14281995, nssv14281999, nssv14281998, nssv14281996, nssv14281997
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEDARADD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196438
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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