A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248118



Internal ID22052728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61377742..61377742hg38UCSC Ensembl
chr11:61145214..61145214hg19UCSC Ensembl
Cytoband11q12.2
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 Variantsnssv17842585
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248118
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