A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941351



Internal ID28270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171324048..171325705hg38UCSC Ensembl
chr3:171041837..171043494hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448366
Supporting Variants
Samples
Known GenesTNIK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002966


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