A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380912



Internal ID22234454
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561034
Supporting Variants
SamplesHG00733
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)nssv14380912
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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