A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471798



Internal ID249525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11044389..11044439hg38UCSC Ensembl
chr6:11044622..11044672hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978997
Samples
Known GenesELOVL2, ELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471798
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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