A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847042



Internal ID22030685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29560429..29560429hg38UCSC Ensembl
chr14:30029635..30029635hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258650
Supporting Variants
Samples
Known GenesMIR548AI
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847042
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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