A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13706904



Internal ID21228700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138692271..138692271hg38UCSC Ensembl
chr8:139704514..139704514hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2817198
Supporting Variants
Samples
Known GenesCOL22A1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13706904
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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