A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458288



Internal ID236317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76315166..76351196hg38UCSC Ensembl
chr5:75610991..75647021hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3836031
hg1936031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967183
Samples
Known GenesSV2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458288
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