A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896242



Internal ID22671331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17695982..17698710hg38UCSC Ensembl
chr6:17696213..17698941hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413996
Samples
Known GenesNUP153
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896242
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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