A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214742



Internal ID22361304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57834865..57835446hg38UCSC Ensembl
chr12:58228648..58229229hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1861n152
Supporting Variantsnssv14364240
SamplesNA19240
Known GenesCTDSP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214742
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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