A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122880



Internal ID21500693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134768599..134768599hg38UCSC Ensembl
chr5:134104289..134104289hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635286
Supporting Variants
SamplesNA19239
Known GenesDDX46
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122880
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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