A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763830



Internal ID20539690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47718674..47718674hg38UCSC Ensembl
chr19:48221931..48221931hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285634
Samples
Known GenesEHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763830
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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