A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457576



Internal ID235616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56594333..56602471hg38UCSC Ensembl
chr4:57460499..57468637hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg388139
hg198139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950167
Samples
Known GenesTHEGL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457576
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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