A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462551



Internal ID240477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176485807..176485884hg38UCSC Ensembl
chr5:175912808..175912885hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977240
Samples
Known GenesFAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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