A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897928



Internal ID172774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233987520..233987560hg38UCSC Ensembl
chr1:234123266..234123306hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537573
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897928
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.06291


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