A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192060



Internal ID22342692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2512279..2512414hg38UCSC Ensembl
chr5:2512393..2512528hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14320749, nssv14320748, nssv14320750, nssv14320746, nssv14320745, nssv14320747
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192060
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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