A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929106



Internal ID22704354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51179534..51179599hg38UCSC Ensembl
chr18:48705904..48705969hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385207
Samples
Known GenesMEX3C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929106
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