A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241781



Internal ID22046391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32837157..32837157hg38UCSC Ensembl
chr1:33302758..33302758hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846119
Samples
Known GenesS100PBP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241781
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