A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564754



Internal ID16005477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46692937..47163863hg38UCSC Ensembl
Innerchr14:47162140..47633066hg19UCSC Ensembl
Innerchr14:46231890..46702816hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38470927
hg19470927
hg18470927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827691
Samples
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564754
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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