A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563649



Internal ID22432385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81721207..81721207hg38UCSC Ensembl
chr3:81770358..81770358hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14307078, nssv14307079, nssv14307081, nssv14307080, nssv14307077
SamplesHG00512, NA19239, HG00732, NA19240, HG00514
Known GenesGBE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563649
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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