A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856656



Internal ID22040299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196400343..196400343hg38UCSC Ensembl
chr3:196127214..196127214hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243685
Supporting Variants
Samples
Known GenesUBXN7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856656
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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