A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410839



Internal ID190154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145963878..145963929hg38UCSC Ensembl
chr1:145471161..145471212hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889067
Samples
Known GenesANKRD34A, LOC100288142, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410839
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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