A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027183



Internal ID85839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123577687..123577738hg38UCSC Ensembl
chr9:126339966..126340017hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408165
Supporting Variants
Samples
Known GenesDENND1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0064


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