A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980207



Internal ID22755142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72039813..72039813hg38UCSC Ensembl
chr14:72506530..72506530hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387198
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980207
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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