A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624369



Internal ID15476256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23488423..23584764hg38UCSC Ensembl
Outerchr22:23830610..23926951hg19UCSC Ensembl
Outerchr22:22160610..22256951hg18UCSC Ensembl
Outerchr22:22155164..22251505hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3896342
hg1996342
hg1896342
hg1796342
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511073
Supporting Variants
SamplesNA18994
Known GenesIGLL1
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)nssv624369
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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