A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13698404



Internal ID21220254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45904648..45904648hg38UCSC Ensembl
chr6:45872385..45872385hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2814153
Supporting Variants
Samples
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13698404
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.982759


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