A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403533



Internal ID22461403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40214938..40215262hg38UCSC Ensembl
chr21:41586865..41587189hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961388
Supporting Variants
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403533
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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