A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122247



Internal ID21507332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50677508..50677508hg38UCSC Ensembl
chr5:49973342..49973342hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg383733
hg193733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637918
Supporting Variants
SamplesNA19983
Known GenesPARP8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122247
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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