A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308609



Internal ID22318569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128465726..128465822hg38UCSC Ensembl
chr3:128184569..128184665hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526704
Supporting Variants
SamplesNA19240
Known GenesDNAJB8, DNAJB8-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308609
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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