A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443560



Internal ID221955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119469910..119471307hg38UCSC Ensembl
chr3:119188757..119190154hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939450
Samples
Known GenesPOGLUT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443560
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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