A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052059



Internal ID18794590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50291535..50364621hg38UCSC Ensembl
Innerchr14:50758253..50831339hg19UCSC Ensembl
Innerchr14:49828003..49901089hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3873087
hg1973087
hg1873087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531016
Samples
Known GenesATP5S, CDKL1, L2HGDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052059
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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