A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588399



Internal ID16029122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326954..22866340hg38UCSC Ensembl
Innerchr22:22681312..23208519hg19UCSC Ensembl
Innerchr22:21011312..21538519hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38539387
hg19527208
hg18527208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1151513
SamplesHGDP01067
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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