A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193890



Internal ID22344280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200675673..200675747hg38UCSC Ensembl
chr1:200644801..200644875hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n152
Supporting Variantsnssv14303046, nssv14303041, nssv14303047, nssv14303045, nssv14303042, nssv14303044, nssv14303043
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193890
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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