A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850913



Internal ID22034556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119260800..119260800hg38UCSC Ensembl
chr2:120018376..120018376hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252918
Supporting Variants
Samples
Known GenesSTEAP3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850913
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