A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179787



Internal ID20746827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31256202..31304594hg38UCSC Ensembl
chr14:31725408..31773800hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3848393
hg1948393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494575
Supporting Variants
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179787
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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