A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120562



Internal ID19283289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69230809..69230889hg38UCSC Ensembl
Outerchr8:70143044..70143124hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962197
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120562
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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