A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873099



Internal ID22648043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44813384..44818048hg38UCSC Ensembl
chr1:45279056..45283720hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384665
hg194665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369742
Samples
Known GenesBTBD19
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873099
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