A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046333



Internal ID18788864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73974642..74115803hg38UCSC Ensembl
Innerchr14:74441345..74582506hg19UCSC Ensembl
Innerchr14:73511098..73652259hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38141162
hg19141162
hg18141162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1937n100
Supporting Variantsnssv3531163
Samples
Known GenesALDH6A1, CCDC176, ENTPD5, LIN52
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046333
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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