A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017112



Internal ID79068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124463286..124463324hg38UCSC Ensembl
chr8:125475527..125475565hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562870
Supporting Variants
Samples
Known GenesRNF139-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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