A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044094



Internal ID18786625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308319..63399207hg38UCSC Ensembl
Innerchr14:63775037..63865925hg19UCSC Ensembl
Innerchr14:62844790..62935678hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3890889
hg1990889
hg1890889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n100
Supporting Variantsnssv3713505, nssv3531066, nssv3531070, nssv3531065, nssv3713504, nssv3713503, nssv3531068, nssv3531069, nssv3713506, nssv3531067
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)nsv1044094
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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