A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241027



Internal ID22045637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50611504..50611504hg38UCSC Ensembl
chr12:51005287..51005287hg19UCSC Ensembl
Cytoband12q13.12
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 Variantsnssv17843903
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241027
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