A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431775



Internal ID21393777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46681584..46682033hg38UCSC Ensembl
chr12:47075367..47075816hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15750376
SamplesMDQ025
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431775
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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