A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561832



Internal ID22430600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50564295..50564295hg38UCSC Ensembl
chr1:51029967..51029967hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367212, nssv14367211
SamplesHG00732, HG00733
Known GenesFAF1
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)nsv3561832
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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