A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309552



Internal ID22189064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141272528..141272704hg38UCSC Ensembl
chr3:140991370..140991546hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526566
Supporting Variants
SamplesHG00731
Known GenesACPL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309552
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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