A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv161n172



Internal ID22814535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267190..16268493hg38UCSC Ensembl
chr12:16420124..16421427hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431704, nsv4431703
SamplesSMI034, MDQ010, SMI041, NB07, SMI018, MDQ025, NB09
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv161n172
Frequency
Sample Size15
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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