A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4586n100



Internal ID20156202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44719617..44799761hg38UCSC Ensembl
chr22:45115497..45195641hg19UCSC Ensembl
chr22:43494161..43574305hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3880145
hg1980145
hg1880145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066741, nsv1061341
Samples
Known GenesARHGAP8, PRR5, PRR5-ARHGAP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4586n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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