A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975435



Internal ID22750370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47335802..47335802hg38UCSC Ensembl
chr19:47839059..47839059hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402564
Samples
Known GenesC5AR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975435
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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