A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509049



Internal ID15825075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3270172..3360939hg38UCSC Ensembl
Outerchr5:3270286..3361053hg19UCSC Ensembl
Outerchr5:3323286..3414053hg18UCSC Ensembl
Outerchr5:3323286..3414053hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3811026
hg1911026
hg1811026
hg1711026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619407
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)nsv509049
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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