A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17024248



Internal ID83905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68435552..68584552hg38UCSC Ensembl
chr9:71050468..71199468hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38149001
hg19149001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476949
Supporting Variants
Samples
Known GenesLOC101927015, PGM5, TMEM252
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17024248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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