A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548221



Internal ID22417180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95773379..96033749hg38UCSC Ensembl
chr2:96439127..96699497hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38260371
hg19260371
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461405, nssv14460818, nssv14464623, nssv14455923
SamplesNA19239, HG00731, NA19240, HG00733
Known GenesFAHD2CP, GPAT2, LINC00342
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548221
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