A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561819



Internal ID22430587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36009093..36009093hg38UCSC Ensembl
chr1:36474694..36474694hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361329, nssv14361327, nssv14361330, nssv14361331, nssv14361328
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known GenesAGO3
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)nsv3561819
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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