A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973571



Internal ID22748506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51888920..51888920hg38UCSC Ensembl
chr20:50505459..50505459hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393660
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973571
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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