A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228873



Internal ID22370915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50475366..50507170hg38UCSC Ensembl
Outerchr13:51049502..51081306hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3831805
hg1931805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257102, nssv14257105, nssv14257103, nssv14257108, nssv14257101, nssv14257107, nssv14257106, nssv14257104
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228873
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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