A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507760



Internal ID6097958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73665853..73671853hg19UCSC Ensembl
Outerchr14:72735606..72741606hg18UCSC Ensembl
Outerchr14:72735606..72741606hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv620570
SamplesNA15510
Known GenesPSEN1
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)nsv507760
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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