A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548012



Internal ID16335421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158757306..158759556hg38UCSC Ensembl
Innerchr1:158727096..158729346hg19UCSC Ensembl
Innerchr1:156993720..156995970hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382251
hg192251
hg182251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv595n54
Supporting Variantsnssv725235, nssv725236
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548012
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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