A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403598



Internal ID22461468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25122023..25125446hg38UCSC Ensembl
chr2:25344892..25348315hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383424
hg193424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881537
Supporting Variants
Samples
Known GenesEFR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403598
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