A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897392



Internal ID172414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225519125..225519176hg38UCSC Ensembl
chr1:225706827..225706878hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411194
Supporting Variants
Samples
Known GenesENAH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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