A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059020



Internal ID19148239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44829417..44859580hg38UCSC Ensembl
Innerchr22:45225297..45255460hg19UCSC Ensembl
Innerchr22:43603961..43634124hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3830164
hg1930164
hg1830164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737481
Samples
Known GenesARHGAP8, 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)nsv1059020
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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