A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438079



Internal ID216650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4543997..4552801hg38UCSC Ensembl
chr4:4545724..4554528hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg388805
hg198805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945334
Samples
Known GenesSTX18-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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