A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219596



Internal ID22364573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121920142..121920469hg38UCSC Ensembl
chr12:122358048..122358375hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365946, nssv14365945
SamplesNA19238, NA19239
Known GenesWDR66
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219596
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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