A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9791n54



Internal ID20143215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56815268..56816476hg38UCSC Ensembl
chr5:56111095..56112303hg19UCSC Ensembl
chr5:56146852..56148060hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381209
hg191209
hg181209
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598197, nsv598201
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9791n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss2
Observed Complex0
Frequencyn/a


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