A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251233



Internal ID22055843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10126095..10126095hg38UCSC Ensembl
chr20:10106743..10106743hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850408
Samples
Known GenesSNAP25-AS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251233
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