A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv373n172



Internal ID22814747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47992317..48083392hg38UCSC Ensembl
chr19:48495574..48586649hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3891076
hg1991076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432838, nsv4432839
SamplesNB12, NB11
Known GenesCABP5, ELSPBP1, PLA2G4C
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv373n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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