A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193965



Internal ID22344346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27874669..27875093hg38UCSC Ensembl
chr1:28201180..28201604hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357694, nssv14357697, nssv14357696, nssv14357695
SamplesHG00512, NA19238, NA19239, HG00513
Known GenesTHEMIS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193965
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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