A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17029745



Internal ID87530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137785366..137785471hg38UCSC Ensembl
chr9:140679818..140679923hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482064
Supporting Variants
Samples
Known GenesEHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17029745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.068842


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