A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217142



Internal ID22362894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841817..116841896hg38UCSC Ensembl
chr12:117279622..117279701hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2012n152
Supporting Variantsnssv14367196, nssv14367195, nssv14367192, nssv14367193, nssv14367194
SamplesNA19238, NA19239, HG00731, HG00732, HG00733
Known GenesRNFT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217142
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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