A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553469



Internal ID22422350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240672311..240702025hg38UCSC Ensembl
chr2:241611728..241641442hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3829715
hg1929715
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462934, nssv14455357, nssv14461068, nssv14452770, nssv14466708, nssv14460556
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known GenesAQP12A, AQP12B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553469
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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