A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892857



Internal ID169409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184073675..184073726hg38UCSC Ensembl
chr1:184042809..184042860hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410727
Supporting Variants
Samples
Known GenesTSEN15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892857
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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