A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547469



Internal ID15988192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109262024..109274623hg38UCSC Ensembl
Innerchr1:109804646..109817245hg19UCSC Ensembl
Innerchr1:109606169..109618768hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3812600
hg1912600
hg1812600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv721462
Samples
Known GenesCELSR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547469
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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