A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509267



Internal ID15476765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54511442..54559433hg38UCSC Ensembl
Outerchr8:55424002..55471993hg19UCSC Ensembl
Outerchr8:55586555..55634546hg18UCSC Ensembl
Outerchr8:55586555..55634546hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382062
hg192062
hg182062
hg172062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623539
SamplesNA18994
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)nsv509267
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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