A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951889



Internal ID22727230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42276682..42276756hg38UCSC Ensembl
chr21:43696792..43696866hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395331
Samples
Known GenesABCG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951889
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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