A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550827



Internal ID22419749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130533892..130650178hg38UCSC Ensembl
chr2:131291465..131407751hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38116287
hg19116287
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466602, nssv14459695, nssv14459433, nssv14460228, nssv14466021, nssv14464676, nssv14457256, nssv14464766, nssv14459401
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCFC1, CFC1B, LOC646743, POTEJ, TISP43
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550827
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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