A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509086



Internal ID15825112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134049268..134095761hg38UCSC Ensembl
Outerchr5:133384959..133431452hg19UCSC Ensembl
Outerchr5:133412858..133459351hg18UCSC Ensembl
Outerchr5:133412858..133459351hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383309
hg193309
hg183309
hg173309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619422
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)nsv509086
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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