A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539202



Internal ID314177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30841808..30930000hg38UCSC Ensembl
chr21:32214127..32302319hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3888193
hg1988193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734610
Samples
Known GenesKRTAP11-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539202
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