A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510951



Internal ID6097821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110151896..110235460hg19UCSC Ensembl
Outerchr1:109953419..110036983hg18UCSC Ensembl
Outerchr1:109863938..109947502hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg1924822
hg1824822
hg1724822
Variant TypeCNV Complex
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv618666
SamplesCHM
Known GenesAMPD2, GNAT2, GSTM1, GSTM2, GSTM4
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)nsv510951
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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