A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366272



Internal ID22146052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107608882..107608974hg38UCSC Ensembl
chr12:108002659..108002751hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222012
Supporting Variants
SamplesHG00514
Known GenesBTBD11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366272
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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