A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088053



Internal ID21404911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79462857..79462857hg38UCSC Ensembl
chr14:79929200..79929200hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646211
Supporting Variants
SamplesHG00512
Known GenesNRXN3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088053
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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