A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559984



Internal ID22428779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69282883..69282883hg38UCSC Ensembl
chr12:69676663..69676663hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361937
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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