A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054848



Internal ID18797379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308319..63398167hg38UCSC Ensembl
Innerchr14:63775037..63864885hg19UCSC Ensembl
Innerchr14:62844790..62934638hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3889849
hg1989849
hg1889849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n100
Supporting Variantsnssv3713501, nssv3713502
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)nsv1054848
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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