A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1938n100



Internal ID20153554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73984364..74075786hg38UCSC Ensembl
chr14:74451067..74542489hg19UCSC Ensembl
chr14:73520820..73612242hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3891423
hg1991423
hg1891423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048009, nsv1035620
Samples
Known GenesALDH6A1, CCDC176, ENTPD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1938n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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