A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397571



Internal ID176977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226668494..226668545hg38UCSC Ensembl
chr1:226856195..226856246hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896842
Samples
Known GenesITPKB, ITPKB-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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