A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547493



Internal ID15988216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109709850..109713598hg38UCSC Ensembl
Innerchr1:110252472..110256220hg19UCSC Ensembl
Innerchr1:110053995..110057743hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383749
hg193749
hg183749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv501n54
Supporting Variantsnssv722251, nssv722250, nssv722249
Samples
Known GenesGSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547493
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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