A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545438



Internal ID15986161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12182702..12185675hg38UCSC Ensembl
Innerchr1:12242759..12245732hg19UCSC Ensembl
Innerchr1:12165346..12168319hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382974
hg192974
hg182974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv112n54
Supporting Variantsnssv710017, nssv710016
Samples
Known GenesTNFRSF1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545438
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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