A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201071



Internal ID22350428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:158467968..158480700hg38UCSC Ensembl
Outerchr4:159389120..159401852hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3812733
hg1912733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273719, nssv14273720, nssv14273724, nssv14273723, nssv14273718, nssv14273722, nssv14273721, nssv14273717
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201071
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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