A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001081



Internal ID19189744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21827487..21834388hg38UCSC Ensembl
Outerchr8:21684999..21691900hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386902
hg196902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153166
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001081
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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