A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410727



Internal ID190042
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 StatusM
Merged Variants
Supporting Variantsnssv16892857
Samples
Known GenesTSEN15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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