A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955251



Internal ID37477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127228371..127231362hg38UCSC Ensembl
chr4:128149526..128152517hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468540
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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