A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487450



Internal ID264788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13572164..14190712hg38UCSC Ensembl
chr8:13429673..14048221hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38618549
hg19618549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007595
Samples
Known GenesSGCZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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