A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511075



Internal ID6098736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24162464..24443517hg19UCSC Ensembl
Outerchr22:22492464..22773517hg18UCSC Ensembl
Outerchr22:22487018..22768071hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv621661, nssv624370, nssv622437
SamplesNA18994, NA15510, NA10860
Known GenesCABIN1, DDT, DDTL, DERL3, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, LOC284889, LOC391322, MIF, SLC2A11, SMARCB1
Method
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)nsv511075
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex3
Frequencyn/a


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