A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948215



Internal ID21368284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51651281..51651281hg38UCSC Ensembl
chr20:50267820..50267820hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188206
SamplesHG002
Known GenesATP9A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948215
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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