A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6090992



Internal ID22000225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73719828..73719828hg38UCSC Ensembl
chr14:74186531..74186531hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603450
Samples
Known GenesELMSAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6090992
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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