A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480941



Internal ID22538845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46450365..46462364hg38UCSC Ensembl
chr21:47870278..47882277hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875263
Supporting Variants
Samples
Known GenesDIP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480941
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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