A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519102



Internal ID15446395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20298576..20319470hg38UCSC Ensembl
Innerchr22:20286099..20306993hg19UCSC Ensembl
Innerchr22:18666099..18686993hg18UCSC Ensembl
Innerchr22:18660653..18681547hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3820895
hg1920895
hg1820895
hg1720895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696577
Samples
Known GenesDGCR6L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519102
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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