A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17511360



Internal ID22569312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125198571..125201783hg38UCSC Ensembl
chr9:127960850..127964062hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853685
Supporting Variants
Samples
Known GenesRABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17511360
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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