A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978997



Internal ID53372
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 StatusS
Merged Variantsnsv5471798
Supporting Variants
Samples
Known GenesELOVL2, ELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978997
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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