A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547586



Internal ID15988309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116897441..116930081hg38UCSC Ensembl
Innerchr1:117440063..117472703hg19UCSC Ensembl
Innerchr1:117241586..117274226hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3832641
hg1932641
hg1832641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722864
Samples
Known GenesPTGFRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547586
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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