A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703183



Internal ID15093149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17411511..17836413hg38UCSC Ensembl
Innerchr22:17890558..18319179hg19UCSC Ensembl
Innerchr22:16270558..16699179hg18UCSC Ensembl
Innerchr22:16265112..16693733hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38424903
hg19428622
hg18428622
hg17428622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526826
Supporting Variants
Samples
Known GenesATP6V1E1, BCL2L13, BID, CECR2, LINC00528, MICAL3, MIR3198-1, SLC25A18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703183
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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