A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249663



Internal ID22054273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21354135..21354135hg38UCSC Ensembl
chr14:21822294..21822294hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845750
Samples
Known GenesSUPT16H
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249663
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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