A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394690



Internal ID22452560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25088040..25090075hg38UCSC Ensembl
chr2:25310909..25312944hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382036
hg192036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876386
Supporting Variants
Samples
Known GenesEFR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394690
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