A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510394



Internal ID6096456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:38600054..38606054hg19UCSC Ensembl
Outerchr15:36387346..36393346hg18UCSC Ensembl
Outerchr15:36387346..36393346hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv621421, nssv622253, nssv618410, nssv624168
SamplesCHM, NA18994, NA15510, NA10860
Known GenesSPRED1
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)nsv510394
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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