A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391337



Internal ID22449207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40183118..40183118hg38UCSC Ensembl
chr21:41555045..41555045hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979754
Supporting Variants
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391337
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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