A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012678



Internal ID76125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56682454..56683285hg38UCSC Ensembl
chr8:57595013..57595844hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475586
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012678
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003434


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