A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510672



Internal ID6096449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2652900..2696475hg19UCSC Ensembl
Outerchr16:2592901..2636476hg18UCSC Ensembl
Outerchr16:2592901..2636476hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg1913396
hg1813396
hg1713396
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv617424
SamplesCHM
Known GenesFLJ42627, LOC652276, PDPK1
Method
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)nsv510672
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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