A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221751



Internal ID22366027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117431415..117431561hg38UCSC Ensembl
chr12:117869220..117869366hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2014n152
Supporting Variantsnssv14367214, nssv14367215, nssv14367213
SamplesHG00512, NA19239, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221751
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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