A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203399



Internal ID22352416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27878123..27878472hg38UCSC Ensembl
chr1:28204634..28204983hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357743, nssv14357741, nssv14357742
SamplesHG00512, HG00513, HG00514
Known GenesTHEMIS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203399
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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