A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328169



Internal ID22234235
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564399
Supporting Variants
SamplesHG00733
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)nssv14328169
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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