A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466850



Internal ID244679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52748069..52749857hg38UCSC Ensembl
chr4:53614236..53616024hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381789
hg191789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950995
Samples
Known GenesERVMER34-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466850
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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