A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061341



Internal ID18803872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44719617..44799761hg38UCSC Ensembl
Innerchr22:45115497..45195641hg19UCSC Ensembl
Innerchr22:43494161..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 Variantsdgv4586n100
Supporting Variantsnssv3592247, nssv3737480
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)nsv1061341
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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