A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433070



Internal ID21395072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234775254..234783253hg38UCSC Ensembl
chr1:234911001..234919000hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n172
Supporting Variantsnssv15748064
SamplesSMI041
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433070
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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