A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051684



Internal ID18794215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63286198..63400959hg38UCSC Ensembl
Innerchr14:63752916..63867677hg19UCSC Ensembl
Innerchr14:62822669..62937430hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38114762
hg19114762
hg18114762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531057
Samples
Known GenesGPHB5, PPP2R5E, RHOJ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051684
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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