A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566025



Internal ID16353434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103847089..103848623hg38UCSC Ensembl
Innerchr14:104313426..104314960hg19UCSC Ensembl
Innerchr14:103383179..103384713hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3947n54
Supporting Variantsnssv834407, nssv834409, nssv834408, nssv834410
Samples
Known GenesLINC00637, PPP1R13B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566025
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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