A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589207



Internal ID16376616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50036428..50157413hg38UCSC Ensembl
Innerchr22:50474857..50595842hg19UCSC Ensembl
Innerchr22:48816984..48937969hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38120986
hg19120986
hg18120986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8137n54
Supporting Variantsnssv1152212
SamplesHGDP00605
Known GenesMLC1, MOV10L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589207
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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