A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565020



Internal ID22433744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21584961..21584961hg38UCSC Ensembl
chr7:21624579..21624579hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14333009
SamplesNA19239
Known GenesDNAH11
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)nsv3565020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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