A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588315



Internal ID16375724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367599..21417359hg38UCSC Ensembl
Innerchr22:21721888..21771648hg19UCSC Ensembl
Innerchr22:20051888..20101648hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3849761
hg1949761
hg1849761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7996n54
Supporting Variantsnssv951964
Samples
Known GenesRIMBP3B, RIMBP3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588315
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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