A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381238



Internal ID22439108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79462861..79462861hg38UCSC Ensembl
chr14:79929204..79929204hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970400
Supporting Variants
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381238
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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