A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022039



Internal ID18764573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132914933..133045063hg38UCSC Ensembl
Innerchr5:132250625..132380755hg19UCSC Ensembl
Innerchr5:132278524..132408654hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38130131
hg19130131
hg18130131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746640
Samples
Known GenesAFF4, ZCCHC10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022039
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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