A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485143



Internal ID262540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127961208..127967668hg38UCSC Ensembl
chr8:128973454..128979914hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386461
hg196461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016446
Samples
Known GenesPVT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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