A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992828



Internal ID19227586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:88100..128600hg38UCSC Ensembl
Outerchr19:88100..128600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3840501
hg1940501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141324
Supporting Variants
SamplesKWS2
Known GenesOR4F17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992828
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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