A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478879



Internal ID256425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64577128..64579727hg38UCSC Ensembl
chr8:65489685..65492284hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013607
Samples
Known GenesLOC401463
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478879
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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