A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599564



Internal ID16040287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119129554..119285977hg38UCSC Ensembl
Innerchr5:118465249..118621672hg19UCSC Ensembl
Innerchr5:118493148..118649571hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38156424
hg19156424
hg18156424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040900
Samples
Known GenesDMXL1, TNFAIP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599564
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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