A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401867



Internal ID181242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214046225..214046276hg38UCSC Ensembl
chr1:214219568..214219619hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896179
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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