A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475750



Internal ID253384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49065177..49065317hg38UCSC Ensembl
chr8:49977736..49977876hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010919
Samples
Known GenesC8orf22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475750
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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