A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011143



Internal ID75076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29011750..29012445hg38UCSC Ensembl
chr8:28869267..28869962hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488526
Supporting Variants
Samples
Known GenesHMBOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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