A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406248



Internal ID22464118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41672809..41672809hg38UCSC Ensembl
chr21:43092969..43092969hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974196
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406248
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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