A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589101



Internal ID16376510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43948896..44098586hg38UCSC Ensembl
Innerchr22:44344776..44494466hg19UCSC Ensembl
Innerchr22:42676109..42825799hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38149691
hg19149691
hg18149691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152190
SamplesHGDP00913
Known GenesPARVB, SAMM50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589101
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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