A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476949



Internal ID254548
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 StatusM
Merged Variants
Supporting Variantsnssv17024248
Samples
Known GenesLOC101927015, PGM5, TMEM252
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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