A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726996



Internal ID150662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41455970..41569950hg38UCSC Ensembl
chr21:42827897..42941877hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38113981
hg19113981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146713
Supporting Variants
Samples
Known GenesMX1, TMPRSS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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