A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1748n152



Internal ID22817451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267189..16268358hg38UCSC Ensembl
chr12:16420123..16421292hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381170
hg191170
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3197966, nsv3198085
SamplesNA19240, HG00733
Known GenesSLC15A5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1748n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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