A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973856



Internal ID22748791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18171172..18171172hg38UCSC Ensembl
chr21:19543489..19543489hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398969
Samples
Known GenesCHODL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973856
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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