A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858237



Internal ID22041880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128262682..128262682hg38UCSC Ensembl
chr5:127598374..127598374hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244819
Supporting Variants
Samples
Known GenesFBN2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858237
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