A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208447



Internal ID22356688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190122791..190123121hg38UCSC Ensembl
chr4:191043946..191044276hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14318470, nssv14318469, nssv14318472, nssv14318467, nssv14318466, nssv14318471, nssv14318468, nssv14318465
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208447
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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