A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224630



Internal ID22367999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3127036..3127608hg38UCSC Ensembl
chr12:3236202..3236774hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361860
SamplesNA19239
Known GenesTSPAN9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224630
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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