A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221832



Internal ID22366086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46451133..46473189hg38UCSC Ensembl
Outerchr13:47025268..47047324hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3822057
hg1922057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2259n152
Supporting Variantsnssv14257085, nssv14257086, nssv14257087, nssv14257088, nssv14257083, nssv14257084, nssv14257089
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221832
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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