A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147298



Internal ID19197855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76671283..76674684hg38UCSC Ensembl
Outerchr9:79286199..79289600hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000072
SamplesKWB1
Known GenesPRUNE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147298
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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