A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487748



Internal ID265080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124250520..124254964hg38UCSC Ensembl
chr9:127012799..127017243hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384445
hg194445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028602
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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