A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17115766



Internal ID21465401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16735298..16735298hg38UCSC Ensembl
chr20:16715943..16715943hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666909
Supporting Variants
SamplesHG03065
Known GenesSNRPB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17115766
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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