A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978992



Internal ID22753927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58557901..58557901hg38UCSC Ensembl
chr14:59024619..59024619hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387197
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978992
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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