A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891165



Internal ID22666200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130597240..130610853hg38UCSC Ensembl
chr5:129932933..129946546hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3813614
hg1913614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409740
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891165
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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