A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006671



Internal ID72066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6457284..6457519hg38UCSC Ensembl
chr8:6314805..6315040hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474351
Supporting Variants
Samples
Known GenesMCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006671
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001561


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