A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229641



Internal ID22371427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29634980..29655467hg38UCSC Ensembl
Outerchr13:30209117..30229604hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3820488
hg1920488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257046, nssv14257040, nssv14257039, nssv14257045, nssv14257041, nssv14257043, nssv14257042, nssv14257044
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229641
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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