A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012635



Internal ID76093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56057698..56058929hg38UCSC Ensembl
chr8:56970257..56971488hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381232
hg191232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492207
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012635
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