A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471343



Internal ID249082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150314857..150315650hg38UCSC Ensembl
chr5:149694420..149695213hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974764
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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