A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053559



Internal ID19142778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47358234..47411757hg38UCSC Ensembl
Innerchr14:47827437..47880960hg19UCSC Ensembl
Innerchr14:46897187..46950710hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3853524
hg1953524
hg1853524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1913n100
Supporting Variantsnssv3531679
Samples
Known GenesMDGA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053559
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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