A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588893



Internal ID16029616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31155174..31284638hg38UCSC Ensembl
Innerchr22:31551160..31680624hg19UCSC Ensembl
Innerchr22:29881160..30010624hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38129465
hg19129465
hg18129465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151737
Samples1780862226_A
Known GenesLIMK2, MIR3928, PIK3IP1, RNF185
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588893
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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