A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561624



Internal ID22430392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215623208..215623208hg38UCSC Ensembl
chr1:215796550..215796550hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306649
SamplesHG00512
Known GenesUSH2A
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)nsv3561624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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