A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480947



Internal ID22538851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46477690..46492322hg38UCSC Ensembl
chr21:47897603..47912235hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814633
hg1914633
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867912
Supporting Variants
Samples
Known GenesDIP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480947
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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