A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011142



Internal ID75075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29011703..29011774hg38UCSC Ensembl
chr8:28869220..28869291hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492783
Supporting Variants
Samples
Known GenesHMBOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011142
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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