A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204047



Internal ID21342852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22765795..22765795hg38UCSC Ensembl
chr8:22623308..22623308hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927907
Supporting Variants
SamplesHG002
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204047
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