A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476596



Internal ID254202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69493974..69494028hg38UCSC Ensembl
chr8:70406209..70406263hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011971
Samples
Known GenesSULF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476596
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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