A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751588



Internal ID20527448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48175144..48175144hg38UCSC Ensembl
chr6:48142880..48142880hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295011
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751588
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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