A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065055



Internal ID18807586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17559085..17632626hg38UCSC Ensembl
Innerchr22:18038786..18115392hg19UCSC Ensembl
Innerchr22:16418786..16495392hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3873542
hg1976607
hg1876607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589328
Samples
Known GenesATP6V1E1, SLC25A18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065055
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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