A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050479



Internal ID18793010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104034090..104339401hg38UCSC Ensembl
Innerchr14:104500427..104805738hg19UCSC Ensembl
Innerchr14:103570180..103876783hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38305312
hg19305312
hg18306604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533563
Samples
Known GenesASPG, KIF26A, MIR203, MIR3545, TDRD9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050479
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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