A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702130



Internal ID125796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:77479680..77482827hg38UCSC Ensembl
chr15:77772022..77775169hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525017
Supporting Variants
Samples
Known GenesHMG20A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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