A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199363



Internal ID22348958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28216651..28218550hg38UCSC Ensembl
chr6:28184429..28186328hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14327582, nssv14327580, nssv14327577, nssv14327583, nssv14327578, nssv14327579, nssv14327585, nssv14327581, nssv14327584
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTOB2P1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199363
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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