A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550812



Internal ID22419734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5981170..5984654hg38UCSC Ensembl
chr17:5884490..5887974hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383485
hg193485
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453788, nssv14462447, nssv14458530, nssv14457009, nssv14459809, nssv14457544, nssv14454858, nssv14453403, nssv14458072
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550812
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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