A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220059



Internal ID22364878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32916243..32917822hg38UCSC Ensembl
chr12:33069177..33070756hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363231, nssv14363229, nssv14363230
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220059
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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