A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239411



Internal ID22044021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49003494..49003494hg38UCSC Ensembl
chr7:49043090..49043090hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838254
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239411
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