A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560676



Internal ID22429472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75032878..75032878hg38UCSC Ensembl
chr14:75499581..75499581hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371563, nssv14371562, nssv14371565, nssv14371561, nssv14371567, nssv14371564, nssv14371566
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00514
Known GenesMLH3
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)nsv3560676
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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