A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588217



Internal ID16028940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19196276..19239752hg38UCSC Ensembl
Innerchr22:19183787..19227275hg19UCSC Ensembl
Innerchr22:17563787..17607275hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3843477
hg1943489
hg1843489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151464
Samples1780854489_A
Known GenesCLTCL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588217
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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