A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191733



Internal ID22342402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212910888..212912827hg38UCSC Ensembl
chr1:213084230..213086169hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381940
hg191940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306884, nssv14306883, nssv14306885, nssv14306888, nssv14306890, nssv14306889, nssv14306887, nssv14306886
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191733
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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