A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041796



Internal ID18784327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73950133..74073431hg38UCSC Ensembl
Innerchr14:74416836..74540134hg19UCSC Ensembl
Innerchr14:73486589..73609887hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38123299
hg19123299
hg18123299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1936n100
Supporting Variantsnssv3531155
Samples
Known GenesALDH6A1, CCDC176, COQ6, ENTPD5, FAM161B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041796
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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