A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456324



Internal ID15169703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308966..63391090hg38UCSC Ensembl
Innerchr14:63775684..63857808hg19UCSC Ensembl
Innerchr14:62845437..62927561hg18UCSC Ensembl
Innerchr14:62845437..62927561hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882125
hg1982125
hg1882125
hg1782125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv257n27
Supporting Variantsnssv533665
Samples1780854257_A
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv456324
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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