A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482100



Internal ID259560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50149257..50987337hg38UCSC Ensembl
chr8:51061817..51899897hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38838081
hg19838081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011420
Samples
Known GenesSNTG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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