A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724620



Internal ID148286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49045217..49045268hg38UCSC Ensembl
chr17:47122579..47122630hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425994
Supporting Variants
Samples
Known GenesIGF2BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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