A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998293



Internal ID19191347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7842013..7843814hg38UCSC Ensembl
Outerchr19:7906899..7908700hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146932
Supporting Variants
SamplesKWB1
Known GenesEVI5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998293
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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