A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564990



Internal ID22433714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128474919..128474919hg38UCSC Ensembl
chr7:128114973..128114973hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338195
SamplesHG00514
Known Genes
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)nsv3564990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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