A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243232



Internal ID22047842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149429248..149429248hg38UCSC Ensembl
chr2:150285762..150285762hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853858
Samples
Known GenesLYPD6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243232
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