A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464891



Internal ID242762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6482537..6482597hg38UCSC Ensembl
chr5:6482650..6482710hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961922
Samples
Known GenesUBE2QL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464891
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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