A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192249



Internal ID20759289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28176428..28183899hg38UCSC Ensembl
chr14:28645634..28653105hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg387472
hg197472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477677
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192249
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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