A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066423



Internal ID18808954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17580125..17701403hg38UCSC Ensembl
Innerchr22:18062891..18184169hg19UCSC Ensembl
Innerchr22:16442891..16564169hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38121279
hg19121279
hg18121279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4465n100
Supporting Variantsnssv3589338
Samples
Known GenesATP6V1E1, BCL2L13, SLC25A18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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