A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758706



Internal ID20534566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48722133..48722133hg38UCSC Ensembl
chr19:49225390..49225390hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290252
Samples
Known GenesRASIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758706
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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