A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193451



Internal ID20760491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65689401..65730700hg38UCSC Ensembl
chr14:66156119..66197418hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3841300
hg1941300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481551
Supporting Variants
Samples
Known GenesFUT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193451
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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