A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204389



Internal ID21343189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26005351..26005351hg38UCSC Ensembl
chr8:25862867..25862867hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3925346
Supporting Variants
SamplesHG002
Known GenesEBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204389
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer