A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561034



Internal ID22429827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52255722..52255722hg38UCSC Ensembl
chr15:52547919..52547919hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389828, nssv14380912
SamplesHG00731, HG00733
Known GenesMYO5C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561034
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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