A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547486



Internal ID16334895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109657738..109690459hg38UCSC Ensembl
Innerchr1:110200360..110233081hg19UCSC Ensembl
Innerchr1:110001883..110034604hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3832722
hg1932722
hg1832722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722238
Samples
Known GenesGSTM1, GSTM2, GSTM4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547486
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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