A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588291



Internal ID16029014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20346736..21106985hg38UCSC Ensembl
Innerchr22:20698139..21461274hg19UCSC Ensembl
Innerchr22:19028139..19791274hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38760250
hg19763136
hg18763136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7993n54
Supporting Variantsnssv951940
Samples
Known GenesAIFM3, BCRP2, CRKL, KLHL22, LOC400891, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, POM121L4P, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP, ZNF74
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588291
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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