A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018151



Internal ID18760684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69081291..69371754hg38UCSC Ensembl
Innerchr5:68377118..68667581hg19UCSC Ensembl
Innerchr5:68412874..68703337hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38290464
hg19290464
hg18290464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5694n100
Supporting Variantsnssv3640794
Samples
Known GenesAK6, CCDC125, CCNB1, CDK7, CENPH, MRPS36, RAD17, SLC30A5, TAF9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018151
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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