A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226344



Internal ID22369178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97989213..97989362hg38UCSC Ensembl
chr12:98382991..98383140hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365795
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226344
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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