A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001541



Internal ID19189483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48795640..48800341hg38UCSC Ensembl
Outerchr8:49708199..49712900hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148031
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001541
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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