A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125010



Internal ID19250478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:45927378..45956378hg38UCSC Ensembl
Outerchr8:46839000..46868000hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3829001
hg1929001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977596, nssv3960167
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125010
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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