A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241831



Internal ID22046441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7299337..7299337hg38UCSC Ensembl
chr2:7439468..7439468hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847894
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241831
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