A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923130



Internal ID22698356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112786234..112797116hg38UCSC Ensembl
chr8:113798463..113809345hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3810883
hg1910883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440929
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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