A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488507



Internal ID265818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119152152..119155326hg38UCSC Ensembl
chr8:120164391..120167565hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017491
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488507
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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