A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564456



Internal ID22433186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46514657..46514657hg38UCSC Ensembl
chr6:46482394..46482394hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14328276, nssv14328278, nssv14328277
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564456
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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