A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230078



Internal ID22371721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20262332..20265602hg38UCSC Ensembl
chr12:20415266..20418536hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg383271
hg193271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361115, nssv14361116
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230078
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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