A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979004



Internal ID53377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11072500..11082000hg38UCSC Ensembl
chr6:11072733..11082233hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg389501
hg199501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461029
Supporting Variants
Samples
Known GenesELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979004
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001562


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer