A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1767n152



Internal ID22817470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24289441..24289755hg38UCSC Ensembl
chr12:24442375..24442689hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3186371, nsv3184466
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesSOX5
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1767n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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