A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511071



Internal ID15827093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21362461..21569086hg38UCSC Ensembl
Outerchr22:21716750..21923375hg19UCSC Ensembl
Outerchr22:20046750..20253375hg18UCSC Ensembl
Outerchr22:20041304..20247929hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38206626
hg19206626
hg18206626
hg17206626
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622436
SamplesNA10860
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv511071
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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