A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848060



Internal ID22031703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5213026..5213026hg38UCSC Ensembl
chr17:5116321..5116321hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250575
Supporting Variants
Samples
Known GenesLOC100130950, SCIMP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848060
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