A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596752



Internal ID21545361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46635538..46635607hg38UCSC Ensembl
chr19:47138795..47138864hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105342
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596752
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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