A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010907



Internal ID74911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48917593..48917743hg38UCSC Ensembl
chr8:49830152..49830302hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482885
Supporting Variants
Samples
Known GenesSNAI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010907
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