A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146713



Internal ID345918
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 StatusM
Merged Variants
Supporting Variantsnssv17726996
Samples
Known GenesMX1, TMPRSS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer