A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309484



Internal ID22259129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138451869..138452052hg38UCSC Ensembl
chr3:138170711..138170894hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202031
Supporting Variants
SamplesNA19238
Known GenesESYT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309484
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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