A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971233



Internal ID48169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143738353..143740762hg38UCSC Ensembl
chr6:144059490..144061899hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg382410
hg192410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469340
Supporting Variants
Samples
Known GenesPHACTR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971233
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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