A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588336



Internal ID16029059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22219245hg38UCSC Ensembl
Innerchr22:22315312..22573637hg19UCSC Ensembl
Innerchr22:20645312..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258306
hg19258326
hg18258326
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151472, nssv951999, nssv951996, nssv951993, nssv951992, nssv951989, nssv951990, nssv951995, nssv951994, nssv951997, nssv952001, nssv1151473, nssv952000, nssv951998, nssv951991
SamplesNINDS_247, 1780862529_A
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588336
Frequency
Sample Size17421
Observed Gain10
Observed Loss5
Observed Complex0
Frequencyn/a


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