A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030085



Internal ID87774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133364726..133364783hg38UCSC Ensembl
chr9:136231602..136231659hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477848
Supporting Variants
Samples
Known GenesSURF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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