A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562849



Internal ID22431591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519326..65519326hg38UCSC Ensembl
chr2:65746460..65746460hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290541, nssv14290545, nssv14290543, nssv14290542, nssv14290544, nssv14290540
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
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)nsv3562849
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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