A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468814



Internal ID21126367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13648230..13648611hg38UCSC Ensembl
chr12:13801164..13801545hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999474
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468814
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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