A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6085280



Internal ID21994513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54709307..54709307hg38UCSC Ensembl
chr14:55176025..55176025hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17608723
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6085280
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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