A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475705



Internal ID253340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:142450..238000hg38UCSC Ensembl
chr9:142450..238000hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3895551
hg1995551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019490
Samples
Known GenesC9orf66, CBWD1, DOCK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475705
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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