A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564961



Internal ID16005684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67266144..67637063hg38UCSC Ensembl
Innerchr14:67732861..68103780hg19UCSC Ensembl
Innerchr14:66802614..67173533hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38370920
hg19370920
hg18370920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149499
SamplesHGDP00650
Known GenesARG2, ATP6V1D, EIF2S1, MPP5, PIGH, PLEK2, PLEKHH1, TMEM229B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564961
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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