A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654044



Internal ID21602349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31789201..31789201hg38UCSC Ensembl
chr16:31800522..31800522hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17082862
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654044
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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