A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547492



Internal ID15988215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109709850..109712974hg38UCSC Ensembl
Innerchr1:110252472..110255596hg19UCSC Ensembl
Innerchr1:110053995..110057119hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383125
hg193125
hg183125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv501n54
Supporting Variantsnssv722247, nssv722245, nssv722248, nssv722246, nssv722244
Samples
Known GenesGSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547492
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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