A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434519



Internal ID22492389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58441351..58441351hg38UCSC Ensembl
chr8:59353910..59353910hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5963301
Supporting Variants
Samples
Known GenesUBXN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434519
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