A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599394



Internal ID16040117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112849794..113110626hg38UCSC Ensembl
Innerchr5:112185491..112446323hg19UCSC Ensembl
Innerchr5:112213390..112474222hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38260833
hg19260833
hg18260833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040381
Samples
Known GenesDCP2, MCC, REEP5, SRP19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599394
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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