A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17156129



Internal ID21401789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124482947..124483112hg38UCSC Ensembl
chr8:125495188..125495353hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581126
Supporting Variants
SamplesHG00096
Known GenesRNF139
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17156129
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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