A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548094



Internal ID15988817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165634423..165635003hg38UCSC Ensembl
Innerchr1:165603660..165604240hg19UCSC Ensembl
Innerchr1:163870284..163870864hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38581
hg19581
hg18581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv612n54
Supporting Variantsnssv727719, nssv727718, nssv727720
Samples
Known GenesMGST3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548094
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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