A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225004



Internal ID22368269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128584988..128585076hg38UCSC Ensembl
chr11:128454883..128454971hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362217, nssv14362215, nssv14362219, nssv14362214, nssv14362216, nssv14362218
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesETS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225004
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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