A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897393



Internal ID172415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225521071..225521190hg38UCSC Ensembl
chr1:225708773..225708892hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444433
Supporting Variants
Samples
Known GenesENAH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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