A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024008



Internal ID18766541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115887277..116095353hg38UCSC Ensembl
Innerchr5:115222974..115431050hg19UCSC Ensembl
Innerchr5:115250873..115458949hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38208077
hg19208077
hg18208077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5789n100
Supporting Variantsnssv3647090, nssv3647089, nssv3647091
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024008
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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