A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053866



Internal ID18796397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73973299..74115803hg38UCSC Ensembl
Innerchr14:74440002..74582506hg19UCSC Ensembl
Innerchr14:73509755..73652259hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38142505
hg19142505
hg18142505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1937n100
Supporting Variantsnssv3531162
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)nsv1053866
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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