A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759941



Internal ID20535801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60281278..60281278hg38UCSC Ensembl
chr12:60675059..60675059hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273237
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759941
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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