A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222481



Internal ID22366546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57877762..57878977hg38UCSC Ensembl
chr12:58271545..58272760hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364243
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222481
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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