A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547496



Internal ID15988219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109710040..109714906hg38UCSC Ensembl
Innerchr1:110252662..110257528hg19UCSC Ensembl
Innerchr1:110054185..110059051hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384867
hg194867
hg184867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv502n54
Supporting Variantsnssv722255, nssv722256
Samples
Known GenesGSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547496
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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