A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413762



Internal ID193052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157167173..157167224hg38UCSC Ensembl
chr5:156594184..156594235hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975932
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer