A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003159



Internal ID18845147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12839285..12840886hg38UCSC Ensembl
Outerchr19:12950099..12951700hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153883
Supporting Variants
SamplesKWB1
Known GenesMAST1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003159
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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