A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517323



Internal ID293749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10586277..10593485hg38UCSC Ensembl
chr21:10918972..10926180hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg387209
hg197209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733922
Samples
Known GenesTPTE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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