A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493548



Internal ID270723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77186310..77228913hg38UCSC Ensembl
chr9:79801226..79843829hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3842604
hg1942604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025937
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493548
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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