A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192550



Internal ID22343119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155273651..155274850hg38UCSC Ensembl
chr1:155243442..155244641hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288052, nssv14288049, nssv14288055, nssv14288053, nssv14288051, nssv14288054, nssv14288050, nssv14288057, nssv14288056
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192550
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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