A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244852



Internal ID22049462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132311378..132311378hg38UCSC Ensembl
chr5:131647071..131647071hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858273
Samples
Known GenesLOC553103, SLC22A4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244852
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