A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566099



Internal ID16006822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104818822..104946204hg38UCSC Ensembl
Innerchr14:105285159..105412541hg19UCSC Ensembl
Innerchr14:104356204..104483586hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38127383
hg19127383
hg18127383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv834639
Samples
Known GenesAHNAK2, CEP170B, LINC00638, PLD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566099
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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