A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417218



Internal ID196421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12105854..12108728hg38UCSC Ensembl
chr1:12165911..12168785hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382875
hg192875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894184
Samples
Known GenesTNFRSF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417218
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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