A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487891



Internal ID265214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52930374..53029819hg38UCSC Ensembl
chr8:53842934..53942379hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3899446
hg1999446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011064
Samples
Known GenesNPBWR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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