A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020972



Internal ID20588012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79555005..79555426hg38UCSC Ensembl
chr14:80021348..80021769hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492066
Supporting Variants
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020972
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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