A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395652



Internal ID175075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19832093..19832144hg38UCSC Ensembl
chr8:19689604..19689655hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009109
Samples
Known GenesINTS10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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