A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589047



Internal ID16029770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40525676..40679539hg38UCSC Ensembl
Innerchr22:40921680..41075543hg19UCSC Ensembl
Innerchr22:39251626..39405489hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38153864
hg19153864
hg18153864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957086
Samples
Known GenesMCHR1, MKL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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