A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620236



Internal ID15819591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58710586..58716586hg38UCSC Ensembl
Outerchr11:58478059..58484059hg19UCSC Ensembl
Outerchr11:58234635..58240635hg18UCSC Ensembl
Outerchr11:58234635..58240635hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507592
Supporting Variants
SamplesNA15510
Known GenesGLYAT
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)nssv620236
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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