A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438238



Internal ID216806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216134951..216223635hg38UCSC Ensembl
chr1:216308293..216396977hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3888685
hg1988685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896271
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438238
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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