A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv506951



Internal ID6097859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103498211..103504211hg19UCSC Ensembl
Outerchr1:103270799..103276799hg18UCSC Ensembl
Outerchr1:103210232..103216232hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv620665, nssv619247, nssv617536, nssv623281
SamplesCHM, NA18994, NA15510, NA10860
Known GenesCOL11A1
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)nsv506951
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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