A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027176



Internal ID85834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123467527..123467527hg38UCSC Ensembl
chr9:126229806..126229806hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549907
Supporting Variants
Samples
Known GenesDENND1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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