A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv954528



Internal ID16248484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25365969..25514700hg38UCSC Ensembl
Innerchr22:25761936..25910667hg19UCSC Ensembl
Innerchr22:24091936..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38148732
hg19148732
hg18148732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588849
Supporting Variants
Samples
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv954528
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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