A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193050



Internal ID22343547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112533293..112599132hg38UCSC Ensembl
Outerchr4:113454449..113520288hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3865840
hg1965840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274411, nssv14274409, nssv14274410, nssv14274407, nssv14274408, nssv14274413, nssv14274414, nssv14274412
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC4orf21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193050
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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