A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470307



Internal ID248075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83025505..83027435hg38UCSC Ensembl
chr6:83735224..83737154hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988233
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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