A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367554



Internal ID22200220
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219959
Supporting Variants
SamplesHG00732
Known GenesTMEM132D
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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