A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517918



Internal ID15445211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21840786..21850504hg38UCSC Ensembl
Innerchr22:22195075..22204793hg19UCSC Ensembl
Innerchr22:20525075..20534793hg18UCSC Ensembl
Innerchr22:20519629..20529347hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg389719
hg199719
hg189719
hg179719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv256n21
Supporting Variantsnssv695330
Samples
Known GenesMAPK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517918
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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