A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874024



Internal ID22648974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28131053..28131379hg38UCSC Ensembl
chr2:28353920..28354246hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390250
Samples
Known GenesBRE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874024
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