A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011064



Internal ID75020
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 StatusS
Merged Variantsnsv5487891
Supporting Variants
Samples
Known GenesNPBWR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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