A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053648



Internal ID18796179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73523413..73583548hg38UCSC Ensembl
Innerchr14:73990117..74050252hg19UCSC Ensembl
Innerchr14:73059870..73120005hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3860136
hg1960136
hg1860136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1935n100
Supporting Variantsnssv3531154
Samples
Known GenesACOT1, ACOT2, HEATR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053648
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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