A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210071



Internal ID22358047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181723751..181727100hg38UCSC Ensembl
chr3:181441539..181444888hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310120, nssv14310122, nssv14310118, nssv14310117, nssv14310124, nssv14310123, nssv14310125, nssv14310119, nssv14310121
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSOX2-OT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210071
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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