A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123672



Internal ID21402642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50684978..50684978hg38UCSC Ensembl
chr5:49980812..49980812hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634482
Supporting Variants
SamplesHG00171
Known GenesPARP8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123672
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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