A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512080



Internal ID288647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27905300..27908606hg38UCSC Ensembl
chr12:28058233..28061539hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383307
hg193307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055118
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512080
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