A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148159



Internal ID19196097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66950964..66954765hg38UCSC Ensembl
Outerchr8:67863199..67867000hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001670
SamplesKWB1
Known GenesTCF24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148159
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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