A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218209



Internal ID22363625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55530444..55530791hg38UCSC Ensembl
chr19:56041811..56042158hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4367n152
Supporting Variantsnssv14287077, nssv14287074, nssv14287080, nssv14287073, nssv14287081, nssv14287079, nssv14287075, nssv14287078, nssv14287076
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSBK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218209
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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