A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846075



Internal ID22029718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57694820..57694820hg38UCSC Ensembl
chr14:58161538..58161538hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258914
Supporting Variants
Samples
Known GenesSLC35F4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846075
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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