A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882675



Internal ID22657652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33225905..33229904hg38UCSC Ensembl
chr2:33450972..33454971hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399528
Samples
Known GenesLTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882675
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