A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845884



Internal ID22029527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51459904..51459904hg38UCSC Ensembl
chr14:51926622..51926622hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258860
Supporting Variants
Samples
Known GenesFRMD6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845884
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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