A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2814153



Internal ID21259491
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 StatusM
Merged Variants
Supporting Variantsnssv13702208, nssv13698404
Samples
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2814153
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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