A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490872



Internal ID268121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40000..148000hg38UCSC Ensembl
chr9:40000..148000hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38108001
hg19108001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n206
Supporting Variantsnssv17019462
Samples
Known GenesCBWD1, FOXD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490872
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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