A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509052



Internal ID15825078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:4169578..4208140hg38UCSC Ensembl
Outerchr5:4169691..4208253hg19UCSC Ensembl
Outerchr5:4222691..4261253hg18UCSC Ensembl
Outerchr5:4222691..4261253hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383002
hg193002
hg183002
hg173002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620810, nssv623434
SamplesNA15510, NA18994
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)nsv509052
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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