A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510654



Internal ID15478150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:23369923..23456432hg38UCSC Ensembl
Outerchr15:23615070..23701579hg19UCSC Ensembl
Outerchr15:21166511..21252672hg18UCSC Ensembl
Outerchr15:21166511..21252672hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3886510
hg1986510
hg1886162
hg1786162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618923
SamplesNA10860
Known Genes
MethodOptical mapping
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)nsv510654
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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