A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588213



Internal ID16028936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18971102..19298293hg38UCSC Ensembl
Innerchr22:18958615..19285816hg19UCSC Ensembl
Innerchr22:17338615..17665816hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38327192
hg19327202
hg18327202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951697
Samples
Known GenesCLTCL1, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR9, GSC2, LOC100652736, SLC25A1, TSSK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588213
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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