A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485338



Internal ID262729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66427917..66428620hg38UCSC Ensembl
chr8:67340152..67340855hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013735
Samples
Known GenesLOC100505676
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485338
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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