A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588404



Internal ID16029127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22327407..22913698hg38UCSC Ensembl
Innerchr22:22681765..23255869hg19UCSC Ensembl
Innerchr22:21011765..21585869hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38586292
hg19574105
hg18574105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1151522
Samples1780854339_A
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)nsv588404
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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