A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981753



Internal ID21891096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17104518..17105476hg38UCSC Ensembl
chr1:17431013..17431971hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519569
Samples
Known GenesPADI2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981753
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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