A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17032189



Internal ID89165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23004130..23004130hg38UCSC Ensembl
chr10:23293059..23293059hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544360
Supporting Variants
Samples
Known GenesARMC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17032189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008753


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