A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588348



Internal ID16029071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21982115..22568655hg38UCSC Ensembl
Innerchr22:22336512..22911060hg19UCSC Ensembl
Innerchr22:20666512..21241060hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38586541
hg19574549
hg18574549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151477
SamplesNINDS_272
Known GenesBMS1P20, LOC648691, PRAME, TOP3B, VPREB1, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588348
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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