A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559381



Internal ID22428184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69850419..69850419hg38UCSC Ensembl
chr10:71610175..71610175hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353016, nssv14353015, nssv14353013, nssv14353011, nssv14353010, nssv14353014, nssv14353012, nssv14353009
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOL13A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559381
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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