A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599709



Internal ID16387118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130760567..130906736hg38UCSC Ensembl
Innerchr5:130096260..130242429hg19UCSC Ensembl
Innerchr5:130124159..130270328hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38146170
hg19146170
hg18146170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153999
SamplesHGDP00676
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599709
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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