A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898371



Internal ID173057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235556920..235565264hg38UCSC Ensembl
chr1:235720220..235728564hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388345
hg198345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436929
Supporting Variants
Samples
Known GenesGNG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898371
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