A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564039



Internal ID16004762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22629313..22794929hg38UCSC Ensembl
Innerchr14:23098218..23264138hg19UCSC Ensembl
Innerchr14:22168058..22333978hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38165617
hg19165921
hg18165921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv824365
Samples
Known GenesOXA1L, SLC7A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564039
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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