A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9790n54



Internal ID20143214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56815165..56816579hg38UCSC Ensembl
chr5:56110992..56112406hg19UCSC Ensembl
chr5:56146749..56148163hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381415
hg191415
hg181415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598204, nsv598196, nsv598193, nsv598207, nsv598198, nsv598192, nsv598200
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9790n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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