A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511070



Internal ID15478564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:15298879..15678792hg38UCSC Ensembl
Outerchr22:16299171..16679084hg19UCSC Ensembl
Outerchr22:14679171..15059084hg18UCSC Ensembl
Outerchr22:14673745..15053638hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38379914
hg19379914
hg18379914
hg17379894
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622435
SamplesNA10860
Known GenesOR11H1
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)nsv511070
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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