A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882757



Internal ID22657734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102003013..102003196hg38UCSC Ensembl
chr2:102619475..102619658hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403108
Samples
Known GenesIL1R2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882757
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