A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187481



Internal ID20754521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52925591..52935344hg38UCSC Ensembl
chr14:53392309..53402062hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg389754
hg199754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489846
Supporting Variants
Samples
Known GenesFERMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187481
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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