A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547494



Internal ID15988217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109709850..109714906hg38UCSC Ensembl
Innerchr1:110252472..110257528hg19UCSC Ensembl
Innerchr1:110053995..110059051hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385057
hg195057
hg185057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv502n54
Supporting Variantsnssv722252
Samples
Known GenesGSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547494
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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