A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17577363



Internal ID21769406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1840387..1840387hg38UCSC Ensembl
chr8:1788553..1788553hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6063552
Supporting Variants
Samples
Known GenesARHGEF10
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17577363
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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