A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431216



Internal ID209999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114471552..114473218hg38UCSC Ensembl
chr1:115014174..115015840hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889588
Samples
Known GenesTRIM33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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