A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507187



Internal ID6095893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:111420425..111426425hg19UCSC Ensembl
Outerchr4:111639874..111645874hg18UCSC Ensembl
Outerchr4:111778029..111784029hg17UCSC Ensembl
Cytoband4q25
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 Variantsnssv621759
SamplesNA10860
Known GenesENPEP
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)nsv507187
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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