A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318465



Internal ID22118503
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208447
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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