A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946573



Internal ID21366642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54555415..54555415hg38UCSC Ensembl
chr8:55467975..55467975hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15204424
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946573
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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