A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036375



Internal ID18778906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308319..63400578hg38UCSC Ensembl
Innerchr14:63775037..63867296hg19UCSC Ensembl
Innerchr14:62844790..62937049hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3892260
hg1992260
hg1892260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n100
Supporting Variantsnssv3531073
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)nsv1036375
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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