A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955052



Internal ID22730274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41752400..41752467hg38UCSC Ensembl
chr21:43172560..43172627hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394099
Samples
Known GenesRIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955052
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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