A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592246



Internal ID18543841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44719617..44794870hg38UCSC Ensembl
Innerchr22:45115497..45190750hg19UCSC Ensembl
Innerchr22:43494161..43569414hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3875254
hg1975254
hg1875254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066741
Supporting Variants
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)nssv3592246
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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