A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8123n54



Internal ID22776018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739796..44741601hg38UCSC Ensembl
chr22:45135676..45137481hg19UCSC Ensembl
chr22:43514340..43516145hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381806
hg191806
hg181806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589119, nsv589115, nsv589116, nsv589118, nsv589113, nsv589117
Samples
Known GenesPRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8123n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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