A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566024



Internal ID16353433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103847089..103848459hg38UCSC Ensembl
Innerchr14:104313426..104314796hg19UCSC Ensembl
Innerchr14:103383179..103384549hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381371
hg191371
hg181371
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3947n54
Supporting Variantsnssv834401, nssv834405, nssv834403, nssv834406, nssv834400, nssv834404, nssv834402
Samples
Known GenesLINC00637, PPP1R13B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566024
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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