A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589138



Internal ID16376547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46411337..46442257hg38UCSC Ensembl
Innerchr22:46807234..46838154hg19UCSC Ensembl
Innerchr22:45185898..45216818hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3830921
hg1930921
hg1830921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152197
Samples1782681313_A
Known GenesCELSR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589138
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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