A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199551



Internal ID22349119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12123090..12132055hg38UCSC Ensembl
chr3:12164590..12173555hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg388966
hg198966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304688, nssv14304690, nssv14304689
SamplesHG00512, HG00513, HG00514
Known GenesSYN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199551
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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