A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963450



Internal ID19207608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9785583..9808162hg38UCSC Ensembl
Outerchr8:9643093..9665672hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3822580
hg1922580
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111356
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963450
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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