A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16294224



Internal ID20503442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1840400..1840496hg38UCSC Ensembl
chr8:1788566..1788662hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4745613
Supporting Variants
Samples
Known GenesARHGEF10
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16294224
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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