A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519574



Internal ID15100181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63301093..63391090hg38UCSC Ensembl
Innerchr14:63767811..63857808hg19UCSC Ensembl
Innerchr14:62837564..62927561hg18UCSC Ensembl
Innerchr14:62837564..62927561hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3889998
hg1989998
hg1889998
hg1789998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682639, nssv677725, nssv682432, nssv674276, nssv663394, nssv656933
Samples
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519574
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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