A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478138



Internal ID255703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33568000..33579000hg38UCSC Ensembl
chr9:33567998..33578998hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3811001
hg1911001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023545
Samples
Known GenesANKRD18B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478138
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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