A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547539



Internal ID16334948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111384821..111391978hg38UCSC Ensembl
Innerchr1:111927443..111934600hg19UCSC Ensembl
Innerchr1:111728966..111736123hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg387158
hg197158
hg187158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv509n54
Supporting Variantsnssv722432
Samples
Known GenesPGCP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547539
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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