A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939433



Internal ID27002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119136526..119283873hg38UCSC Ensembl
chr3:118855373..119002720hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38147348
hg19147348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447678
Supporting Variants
Samples
Known GenesB4GALT4, C3orf30, IGSF11, UPK1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939433
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