A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550331



Internal ID323897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28812573..28812608hg38UCSC Ensembl
chr8:28670090..28670125hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011122
Samples
Known GenesINTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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