A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599716



Internal ID16040439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133152748..133531447hg38UCSC Ensembl
Innerchr5:132488440..132867138hg19UCSC Ensembl
Innerchr5:132516339..132895037hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38378700
hg19378699
hg18378699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032515
Samples
Known GenesFSTL4, MIR1289-2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599716
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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