A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394099



Internal ID22451969
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 StatusS
Merged Variantsnsv5955052
Supporting Variants
Samples
Known GenesRIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394099
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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