A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486217



Internal ID263587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95281601..95281730hg38UCSC Ensembl
chr8:96293829..96293958hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016039
Samples
Known GenesLOC100616530
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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