A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147506



Internal ID19200468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48466763..48469864hg38UCSC Ensembl
Outerchr13:49040899..49044000hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000279
SamplesKWB1
Known GenesRB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147506
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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