A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509430



Internal ID15476928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73794575..73860940hg38UCSC Ensembl
Outerchr11:73505620..73571985hg19UCSC Ensembl
Outerchr11:73183268..73249633hg18UCSC Ensembl
Outerchr11:73183268..73249633hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383051
hg193051
hg183051
hg173051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619389
SamplesNA10860
Known GenesMRPL48
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)nsv509430
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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