A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556019



Internal ID329166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51912611..51912662hg38UCSC Ensembl
chr5:51208445..51208496hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965891
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556019
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