A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427632



Internal ID206533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35228389..35228440hg38UCSC Ensembl
chr19:35719292..35719343hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723000
Samples
Known GenesFAM187B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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