A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508549



Internal ID15824576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:64663199..65213559hg38UCSC Ensembl
Outerchr9:69675617..70357588hg19UCSC Ensembl
Outerchr9:68965437..69597408hg18UCSC Ensembl
Outerchr9:67578493..67866075hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38550361
hg19681972
hg18631972
hg17287583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618854
SamplesNA10860
Known GenesFOXD4L5
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)nsv508549
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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