A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549652



Internal ID22418594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227492259..227500523hg38UCSC Ensembl
chr1:227679960..227688224hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388265
hg198265
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454686, nssv14455083, nssv14463011
SamplesHG00512, NA19239, HG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549652
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer