A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996219



Internal ID19191952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6131988..6133489hg38UCSC Ensembl
Outerchr19:6131999..6133500hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150744
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996219
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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