A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431809



Internal ID21393811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71795445..71796867hg38UCSC Ensembl
chr12:72189225..72190647hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381423
hg191423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175n172
Supporting Variantsnssv15746228
SamplesMDQ045
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431809
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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