A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8130n54



Internal ID22776025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48727849..48755491hg38UCSC Ensembl
chr22:49123661..49151303hg19UCSC Ensembl
chr22:47509667..47537309hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3827643
hg1927643
hg1827643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589167, nsv589166
Samples1780862303_A
Known GenesFAM19A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8130n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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