A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149494



Internal ID15506830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308966..63391090hg38UCSC Ensembl
Innerchr14:63775684..63857808hg19UCSC Ensembl
Innerchr14:62845437..62927561hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882125
hg1982125
hg1882125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564899
Supporting Variants
Samples1780854257_A
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149494
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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