A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964377



Internal ID43555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37204863..37539399hg38UCSC Ensembl
chr5:37204965..37539501hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38334537
hg19334537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461288
Supporting Variants
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964377
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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