A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247534



Internal ID22052144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:113133047..113133047hg38UCSC Ensembl
chr10:114892806..114892806hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843007
Samples
Known GenesTCF7L2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247534
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