A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196770



Internal ID20763810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52771829..52864354hg38UCSC Ensembl
chr14:53238547..53331072hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3892526
hg1992526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479512
Supporting Variants
Samples
Known GenesFERMT2, GNPNAT1, STYX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196770
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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