A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931303



Internal ID22706585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124882994..124884351hg38UCSC Ensembl
chr12:125367540..125368897hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381358
hg191358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n209
Supporting Variantsnssv17352801
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931303
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