A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454708



Internal ID22129310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109753975..110654845hg38UCSC Ensembl
chr2:110511552..111412422hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38900871
hg19900871
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232603
Supporting Variants
SamplesHG00512
Known GenesBUB1, LIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454708
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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