A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588400



Internal ID16029123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326954..22892612hg38UCSC Ensembl
Innerchr22:22681312..23234792hg19UCSC Ensembl
Innerchr22:21011312..21564792hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38565659
hg19553481
hg18553481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1151514
SamplesHGDP00777
Known GenesGGTLC2, IGLL5, 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)nsv588400
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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