A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058565



Internal ID18801096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18060494..18159378hg38UCSC Ensembl
Innerchr22:18543260..18642145hg19UCSC Ensembl
Innerchr22:16923260..17022145hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3898885
hg1998886
hg1898886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589343
Samples
Known GenesPEX26, TUBA8, USP18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058565
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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