A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537573



Internal ID312825
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 StatusM
Merged Variants
Supporting Variantsnssv16897928
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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