A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896805



Internal ID172019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226226655..226227859hg38UCSC Ensembl
chr1:226414356..226415560hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381205
hg191205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452858
Supporting Variants
Samples
Known GenesMIXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896805
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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