A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554169



Internal ID22423037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129083807..129083807hg38UCSC Ensembl
chr12:129568352..129568352hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381906
hg191906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444255
SamplesHG00733
Known GenesTMEM132D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554169
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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