A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418723



Internal ID197883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11894368..11894442hg38UCSC Ensembl
chr1:11954425..11954499hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892842
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418723
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