A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239616



Internal ID22044226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116225181..116225181hg38UCSC Ensembl
chr7:115865235..115865235hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839709
Samples
Known GenesTES
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239616
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