A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000538



Internal ID19189449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:35528581..35532182hg38UCSC Ensembl
Outerchr8:35386099..35389700hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148503
Supporting Variants
SamplesKWB1
Known GenesUNC5D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000538
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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