A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670308



Internal ID21618615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47666120..47666120hg38UCSC Ensembl
chr20:46294864..46294864hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17117265
SamplesHG00512
Known GenesSULF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670308
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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