A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508627



Internal ID15824654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47031108..47062456hg38UCSC Ensembl
Outerchr11:47052659..47084007hg19UCSC Ensembl
Outerchr11:47009235..47040583hg18UCSC Ensembl
Outerchr11:47009235..47040583hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3831349
hg1931349
hg1831349
hg1731349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622459, nssv618708
SamplesNA18994, NA10860
Known GenesC11orf49
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)nsv508627
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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