A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv807250



Internal ID15754520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31682595..31771071hg38UCSC Ensembl
Innerchr13:32256732..32345208hg19UCSC Ensembl
Innerchr13:31154732..31243208hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3888477
hg1988477
hg1888477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561401
Supporting Variants
Samples
Known GenesRXFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv807250
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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