A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv358n172



Internal ID22814732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8104523..8104888hg38UCSC Ensembl
chr19:8169407..8169772hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432889, nsv4432890
SamplesNB07, NB09
Known GenesFBN3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv358n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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