A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053882



Internal ID18796413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308319..63390818hg38UCSC Ensembl
Innerchr14:63775037..63857536hg19UCSC Ensembl
Innerchr14:62844790..62927289hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882500
hg1982500
hg1882500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n100
Supporting Variantsnssv3713499, nssv3531063, nssv3531060, nssv3531062, nssv3531059, nssv3531061, nssv3713500, nssv3531064
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)nsv1053882
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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