A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509093



Internal ID15476591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141806786..141884647hg38UCSC Ensembl
Outerchr5:141186353..141264212hg19UCSC Ensembl
Outerchr5:141166537..141244396hg18UCSC Ensembl
Outerchr5:141166537..141244396hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384596
hg194596
hg184596
hg174596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623457, nssv619426
SamplesNA18994, NA10860
Known GenesPCDH1
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)nsv509093
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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