A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6090308



Internal ID21999541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50889325..50889325hg38UCSC Ensembl
chr14:51356043..51356043hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17616345
Samples
Known GenesABHD12B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6090308
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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