A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192322



Internal ID22342926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179836594..179836703hg38UCSC Ensembl
chr1:179805729..179805838hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297352, nssv14297353
SamplesNA19238, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192322
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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