A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564399



Internal ID22433129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97260921..97260921hg38UCSC Ensembl
chr6:97708797..97708797hg19UCSC Ensembl
Cytoband6q16.1
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 Variantsnssv14328168, nssv14328169
SamplesHG00731, HG00733
Known GenesMIR548H3, MMS22L
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)nsv3564399
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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