A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919557



Internal ID22694779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13899389..13899880hg38UCSC Ensembl
chr12:14052323..14052814hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366900
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919557
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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