A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049253



Internal ID18791784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104918622..105005518hg38UCSC Ensembl
Innerchr14:105384959..105471855hg19UCSC Ensembl
Innerchr14:104456004..104542900hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3886897
hg1986897
hg1886897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529817
Samples
Known GenesAHNAK2, C14orf79, PLD4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049253
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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