A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475126



Internal ID252773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30725314..30726523hg38UCSC Ensembl
chr8:30582831..30584040hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011220
Samples
Known GenesGSR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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