A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329221



Internal ID22142553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69816453..69816453hg38UCSC Ensembl
chr6:70526345..70526345hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564682
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329221
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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