A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023705



Internal ID83513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:36244000..36254000hg38UCSC Ensembl
chr9:36243997..36253997hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141901
Supporting Variants
Samples
Known GenesGNE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023705
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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