A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934811



Internal ID23941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57114199..57114250hg38UCSC Ensembl
chr3:57148227..57148278hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549562
Supporting Variants
Samples
Known GenesIL17RD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934811
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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