A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554977



Internal ID328146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54703502..54703537hg38UCSC Ensembl
chr5:53999330..53999365hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965610
Samples
Known GenesLOC102467080
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554977
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