A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548093



Internal ID15988816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165634423..165634952hg38UCSC Ensembl
Innerchr1:165603660..165604189hg19UCSC Ensembl
Innerchr1:163870284..163870813hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38530
hg19530
hg18530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv612n54
Supporting Variantsnssv727716, nssv727717
Samples
Known GenesMGST3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548093
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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