A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015613



Internal ID78060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92091671..92091722hg38UCSC Ensembl
chr8:93103899..93103950hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408137
Supporting Variants
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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