A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953554



Internal ID22728833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94422600..94422600hg38UCSC Ensembl
chr8:95434828..95434828hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437505
Samples
Known GenesRAD54B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953554
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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