A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052190



Internal ID18794721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104957424..105256316hg38UCSC Ensembl
Innerchr14:105423761..105722653hg19UCSC Ensembl
Innerchr14:104494806..104793698hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38298893
hg19298893
hg18298893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529818
Samples
Known GenesAHNAK2, BRF1, BTBD6, C14orf79, CDCA4, GPR132, JAG2, MIR6765, NUDT14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052190
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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