A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009854



Internal ID74213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47356297..47358983hg38UCSC Ensembl
chr8:48268864..48271550hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382687
hg192687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477054
Supporting Variants
Samples
Known GenesSPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009854
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