A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17031365



Internal ID88612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137069000..137089536hg38UCSC Ensembl
chr9:139963452..139983988hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3820537
hg1920537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142023
Supporting Variants
Samples
Known GenesMAN1B1, MAN1B1-AS1, SAPCD2, UAP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17031365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.125


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