A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975058



Internal ID50760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134656627..134659066hg38UCSC Ensembl
chr5:133992317..133994756hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382440
hg192440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457970
Supporting Variants
Samples
Known GenesSEC24A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975058
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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