A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009314



Internal ID73844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30538837..30539531hg38UCSC Ensembl
chr8:30396354..30397048hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485016
Supporting Variants
Samples
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009314
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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