A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219795



Internal ID22364700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105767400..105776331hg38UCSC Ensembl
chr12:106161178..106170109hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388932
hg198932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365618, nssv14365617
SamplesHG00512, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219795
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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