A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6006328



Internal ID21915671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116678861..116679587hg38UCSC Ensembl
chr8:117691100..117691826hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17591467
Samples
Known GenesEIF3H
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6006328
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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