A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597784



Internal ID16385193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32312399..32317333hg38UCSC Ensembl
Innerchr5:32312505..32317439hg19UCSC Ensembl
Innerchr5:32348262..32353196hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384935
hg194935
hg184935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028909, nssv1028908
Samples
Known GenesMTMR12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597784
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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