A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762603



Internal ID18962380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55526532..55530433hg38UCSC Ensembl
chr19:56037899..56041800hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077868
Supporting Variants
SamplesKWP1
Known GenesSBK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762603
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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