A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115254



Internal ID21298520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170705417..170794879hg38UCSC Ensembl
Innerchr5:170132421..170221883hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3889463
hg1989463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14108794
Samplessample160
Known GenesGABRP, KCNIP1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115254
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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