A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588878



Internal ID16029601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27852852..27918125hg38UCSC Ensembl
Innerchr22:28248840..28314113hg19UCSC Ensembl
Innerchr22:26578840..26644113hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3865274
hg1965274
hg1865274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv954554
Samples
Known GenesMIR548AM, PITPNB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588878
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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