A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230140



Internal ID22371764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17956140..17957527hg38UCSC Ensembl
chr11:17977687..17979074hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14355427, nssv14355431, nssv14355428, nssv14355430, nssv14355425, nssv14355432, nssv14355433, nssv14355426, nssv14355429
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSERGEF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230140
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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