A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv154n172



Internal ID22814528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5431567..5432726hg38UCSC Ensembl
chr12:5540733..5541892hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431787, nsv4431788
SamplesSMI034, NB10
Known GenesNTF3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv154n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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