A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559640



Internal ID22428440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4309618..4309618hg38UCSC Ensembl
chr12:4418784..4418784hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362535, nssv14362537, nssv14362536
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559640
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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