A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752382



Internal ID20528242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98492566..98492566hg38UCSC Ensembl
chr12:98886344..98886344hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291009
Samples
Known GenesLOC643770
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752382
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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