A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190862



Internal ID20757902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60970801..60975600hg38UCSC Ensembl
chr14:61437519..61442318hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480571
Supporting Variants
Samples
Known GenesTRMT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190862
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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