A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119171



Internal ID18933042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22999087..22999887hg38UCSC Ensembl
Outerchr8:22856600..22857400hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981977
SamplesKWS1
Known GenesRHOBTB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119171
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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