A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597861



Internal ID16385270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:39069888..39074594hg38UCSC Ensembl
Innerchr5:39069990..39074696hg19UCSC Ensembl
Innerchr5:39105747..39110453hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384707
hg194707
hg184707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029114
Samples
Known GenesRICTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597861
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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