A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116930



Internal ID21300196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99733319..99738873hg38UCSC Ensembl
Innerchr1:100198875..100204429hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385555
hg195555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14095569, nssv14095982
Samplessample340, sample329
Known GenesFRRS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116930
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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