A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498612



Internal ID275602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32754246..32927890hg38UCSC Ensembl
chr11:32775792..32949436hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38173645
hg19173645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043088
Samples
Known GenesCCDC73, PRRG4, QSER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498612
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