A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118303



Internal ID21301569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40979194..40981620hg38UCSC Ensembl
Innerchr1:41444866..41447292hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382427
hg192427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14090843
Samplessample24
Known GenesCTPS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118303
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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