A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049103



Internal ID18791634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73984364..74108983hg38UCSC Ensembl
Innerchr14:74451067..74575686hg19UCSC Ensembl
Innerchr14:73520820..73645439hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38124620
hg19124620
hg18124620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1937n100
Supporting Variantsnssv3531165
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)nsv1049103
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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