A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443487



Internal ID22501357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136081757..136148860hg38UCSC Ensembl
chr9:138973603..139040706hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3867104
hg1967104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5919455
Supporting Variants
Samples
Known GenesC9orf69, NACC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443487
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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