A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532940



Internal ID308842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39344202..39344291hg38UCSC Ensembl
chr19:39834842..39834931hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723330
Samples
Known GenesSAMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532940
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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