A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv278n172



Internal ID22814652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6790200..7046799hg38UCSC Ensembl
chr16:6840201..7096800hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38256600
hg19256600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432356, nsv4432357
SamplesSMI034, BTQ038, BTQ016, SMI041
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv278n172
Frequency
Sample Size15
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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