A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020966



Internal ID20588006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79457601..79461100hg38UCSC Ensembl
chr14:79923944..79927443hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478538
Supporting Variants
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020966
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0002


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