A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192408



Internal ID22343001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132600767..132601153hg38UCSC Ensembl
chr6:132921906..132922292hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331033, nssv14331035, nssv14331029, nssv14331034, nssv14331032, nssv14331031, nssv14331037, nssv14331036, nssv14331030
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192408
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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