A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510593



Internal ID15478089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93132095..93148878hg38UCSC Ensembl
Outerchr11:92865261..92882044hg19UCSC Ensembl
Outerchr11:92504909..92521692hg18UCSC Ensembl
Outerchr11:92504909..92521692hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3816784
hg1916784
hg1816784
hg1716784
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618618
SamplesCHM
Known GenesSLC36A4
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)nsv510593
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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