A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087121



Internal ID21463090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54947743..54947743hg38UCSC Ensembl
chr16:54981655..54981655hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5662863
Supporting Variants
SamplesHG03009
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087121
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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