A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549062



Internal ID22418010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91820048..92039398hg38UCSC Ensembl
chr2:92008074..92227424hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38219351
hg19219351
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455406, nssv14460944, nssv14455840, nssv14459612, nssv14457235
SamplesNA19238, NA19239, HG00732, NA19240, HG00513
Known GenesACTR3BP2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549062
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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