A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932452



Internal ID22707750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:78879949..78880260hg38UCSC Ensembl
chr14:79346292..79346603hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371034
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932452
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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