A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897930



Internal ID172776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234006691..234007436hg38UCSC Ensembl
chr1:234142437..234143182hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436983
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897930
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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