A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039158



Internal ID18781689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308319..63399968hg38UCSC Ensembl
Innerchr14:63775037..63866686hg19UCSC Ensembl
Innerchr14:62844790..62936439hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3891650
hg1991650
hg1891650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n100
Supporting Variantsnssv3531072, nssv3531071
Samples
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039158
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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