A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216303



Internal ID22362338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14311483..14311803hg38UCSC Ensembl
chr12:14464417..14464737hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360356
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216303
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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