A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545843



Internal ID22414846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18607041..18827456hg38UCSC Ensembl
chr17:18510354..18730769hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38220416
hg19220416
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462277, nssv14466380
SamplesNA19239, NA19240
Known GenesCCDC144B, FBXW10, FOXO3B, TBC1D28, TRIM16L, TVP23B, ZNF286B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545843
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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