A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224812



Internal ID22368131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129087975..129089534hg38UCSC Ensembl
chr12:129572520..129574079hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2069n152
Supporting Variantsnssv14425319
SamplesHG00514
Known GenesTMEM132D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224812
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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