A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3947n54



Internal ID22771842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103847089..103848623hg38UCSC Ensembl
chr14:104313426..104314960hg19UCSC Ensembl
chr14:103383179..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 Variants
Supporting Variantsnsv566024, nsv566025
Samples
Known GenesLINC00637, PPP1R13B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3947n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss3
Observed Complex0
Frequencyn/a


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