A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888194



Internal ID22663196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160164390..160165286hg38UCSC Ensembl
chr3:159882177..159883073hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427146
Samples
Known GenesIL12A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888194
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