A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562968



Internal ID22431710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170165980..170165980hg38UCSC Ensembl
chr3:169883768..169883768hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310564, nssv14310563
SamplesHG00512, HG00514
Known GenesPHC3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562968
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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