A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188214



Internal ID20755254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64764223..64780870hg38UCSC Ensembl
chr14:65230941..65247588hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3816648
hg1916648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489464
Supporting Variants
Samples
Known GenesSPTB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188214
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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