A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997185



Internal ID18841954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:426999..434600hg38UCSC Ensembl
Outerchr19:426999..434600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387602
hg197602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145825
Supporting Variants
SamplesKWB1
Known GenesSHC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997185
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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