A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041108



Internal ID18783639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63298943..63398167hg38UCSC Ensembl
Innerchr14:63765661..63864885hg19UCSC Ensembl
Innerchr14:62835414..62934638hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3899225
hg1999225
hg1899225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n100
Supporting Variantsnssv3713498
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)nsv1041108
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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