A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192175



Internal ID20759215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45065595..45093017hg38UCSC Ensembl
chr14:45534798..45562220hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3827423
hg1927423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482278
Supporting Variants
Samples
Known GenesFAM179B, PRPF39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192175
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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