A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245247



Internal ID22049857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149388651..149388651hg38UCSC Ensembl
chr1:145207166..145207166hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17860024
Samples
Known GenesLOC100288142, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245247
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