A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624370



Internal ID15476257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24260764..24443517hg19UCSC Ensembl
Outerchr22:22590764..22773517hg18UCSC Ensembl
Outerchr22:22585318..22768071hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg19182754
hg18182754
hg17182754
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511075
Supporting Variants
SamplesNA18994
Known GenesCABIN1, DDT, DDTL, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, LOC391322
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)nssv624370
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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