A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510804



Internal ID15826829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21670242..21778475hg38UCSC Ensembl
Outerchr22:22024531..22132764hg19UCSC Ensembl
Outerchr22:20354531..20462764hg18UCSC Ensembl
Outerchr22:20349085..20457318hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38108234
hg19108234
hg18108234
hg17108234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619021
SamplesNA10860
Known GenesMAPK1, PPIL2, YPEL1
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)nsv510804
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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