A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253133



Internal ID22057743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190273704..190273704hg38UCSC Ensembl
chr2:191138430..191138430hg19UCSC Ensembl
Cytoband2q32.2
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 Variantsnssv17853152
Samples
Known GenesHIBCH
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253133
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