A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473224



Internal ID250912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128958312..128969337hg38UCSC Ensembl
chr5:128294005..128305030hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3811026
hg1911026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974970
Samples
Known GenesSLC27A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473224
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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