A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588299



Internal ID16029022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20600473..21108064hg38UCSC Ensembl
Innerchr22:20954760..21462353hg19UCSC Ensembl
Innerchr22:19284760..19792353hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38507592
hg19507594
hg18507594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7994n54
Supporting Variantsnssv951948
Samples
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, POM121L4P, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588299
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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