A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060548



Internal ID18803079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21724874..21772537hg38UCSC Ensembl
Innerchr22:22079163..22126826hg19UCSC Ensembl
Innerchr22:20409163..20456826hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3847664
hg1947664
hg1847664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3588812
Samples
Known GenesMAPK1, YPEL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060548
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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