A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229393



Internal ID22371260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111874177..111874382hg38UCSC Ensembl
chr13:112528491..112528696hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14369462, nssv14369455, nssv14369460, nssv14369458, nssv14369459, nssv14369461, nssv14369457, nssv14369456
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229393
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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