A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754863



Internal ID20530723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113813646..113813646hg38UCSC Ensembl
chr12:114251451..114251451hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266479
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754863
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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