A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598945



Internal ID16386354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93584115..93585025hg38UCSC Ensembl
Innerchr5:92919821..92920731hg19UCSC Ensembl
Innerchr5:92945577..92946487hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38911
hg19911
hg18911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9936n54
Supporting Variantsnssv1038090
Samples
Known GenesNR2F1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598945
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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