A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970927



Internal ID22745862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42933640..42933640hg38UCSC Ensembl
chr21:44353750..44353750hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395075
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970927
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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