A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560193



Internal ID333206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83097382..83097384hg38UCSC Ensembl
chr4:84018535..84018537hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952583
Samples
Known GenesPLAC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560193
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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