A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548284



Internal ID15989007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179360764..179365666hg38UCSC Ensembl
Innerchr1:179329899..179334801hg19UCSC Ensembl
Innerchr1:177596522..177601424hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384903
hg194903
hg184903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645n54
Supporting Variantsnssv729215, nssv729214, nssv729212, nssv729213, nssv729211
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548284
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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