A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532318



Internal ID308244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3800519..3847305hg38UCSC Ensembl
chr19:3800517..3847303hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3846787
hg1946787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720619
Samples
Known GenesMATK, ZFR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532318
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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