A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463987



Internal ID241875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83173464..83173992hg38UCSC Ensembl
chr6:83883183..83883711hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985761
Samples
Known GenesPGM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463987
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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