A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6026288



Internal ID21935631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46641152..46643149hg38UCSC Ensembl
chr18:44221115..44223112hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381998
hg191998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17625995
Samples
Known GenesLOXHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6026288
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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