A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203330



Internal ID22352362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55240234..55240579hg38UCSC Ensembl
chr1:55705907..55706252hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366515, nssv14366520, nssv14366516, nssv14366517, nssv14366519, nssv14366518
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203330
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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