A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509410



Internal ID15825436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:56671333..56724479hg38UCSC Ensembl
Outerchr11:56438809..56491955hg19UCSC Ensembl
Outerchr11:56195385..56248531hg18UCSC Ensembl
Outerchr11:56195385..56248531hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg389318
hg199318
hg189318
hg179318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619346, nssv620782, nssv623411
SamplesNA15510, NA18994, NA10860
Known GenesOR9G1, OR9G9
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)nsv509410
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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