A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202293



Internal ID22351476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186418310..186438617hg38UCSC Ensembl
Outerchr4:187339464..187359771hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3820308
hg1920308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273803, nssv14273805, nssv14273804, nssv14273801, nssv14273800, nssv14273806, nssv14273802
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesF11-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202293
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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