A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492783



Internal ID269985
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 StatusM
Merged Variants
Supporting Variantsnssv17011142
Samples
Known GenesHMBOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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