A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526704



Internal ID22396087
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308606, nssv14308608, nssv14308607, nssv14308609
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesDNAJB8, DNAJB8-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526704
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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