A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204120



Internal ID21342920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108800792..108800792hg38UCSC Ensembl
chr8:109813021..109813021hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934757
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204120
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