A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477355



Internal ID254940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48911830..48917369hg38UCSC Ensembl
chr8:49824389..49829928hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg385540
hg195540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010906
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477355
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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