A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456331



Internal ID15169710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67266144..67637063hg38UCSC Ensembl
Innerchr14:67732861..68103780hg19UCSC Ensembl
Innerchr14:66802614..67173533hg18UCSC Ensembl
Innerchr14:66802614..67173533hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38370920
hg19370920
hg18370920
hg17370920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533672
SamplesHGDP00650
Known GenesARG2, ATP6V1D, EIF2S1, MPP5, PIGH, PLEK2, PLEKHH1, TMEM229B
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)nsv456331
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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