A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420517



Internal ID199619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19189137..19189242hg38UCSC Ensembl
chr1:19515631..19515736hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899097
Samples
Known GenesUBR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420517
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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