A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv954743



Internal ID15902013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33748836..33760620hg38UCSC Ensembl
Innerchr22:34144823..34156607hg19UCSC Ensembl
Innerchr22:32474823..32486607hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3811785
hg1911785
hg1811785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588937
Supporting Variants
Samples
Known GenesLARGE, LARGE-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv954743
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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