A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599701



Internal ID16040424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128992472..129437359hg38UCSC Ensembl
Innerchr5:128328165..128773052hg19UCSC Ensembl
Innerchr5:128356064..128800951hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38444888
hg19444888
hg18444888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032502
Samples
Known GenesISOC1, MIR4460, MIR4633, SLC27A6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599701
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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