A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042303



Internal ID18784834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104969312..105167207hg38UCSC Ensembl
Innerchr14:105435649..105633544hg19UCSC Ensembl
Innerchr14:104506694..104704589hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38197896
hg19197896
hg18197896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529819
Samples
Known GenesAHNAK2, C14orf79, CDCA4, GPR132, JAG2, MIR6765
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042303
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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