A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618758



Internal ID15818562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73438236..73524483hg38UCSC Ensembl
Outerchr11:73149281..73235528hg19UCSC Ensembl
Outerchr11:72826929..72913176hg18UCSC Ensembl
Outerchr11:72826929..72913176hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3886248
hg1986248
hg1886248
hg1786248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508641
Supporting Variants
SamplesNA10860
Known GenesFAM168A
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)nssv618758
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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