A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971709



Internal ID22746644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56404812..56404812hg38UCSC Ensembl
chr20:54979868..54979868hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392243
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971709
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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