A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469054



Internal ID246847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121769841..121771666hg38UCSC Ensembl
chr4:122690996..122692821hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381826
hg191826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954592
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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