A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509328



Internal ID15476826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132084017..132270727hg38UCSC Ensembl
Outerchr9:134959404..135146114hg19UCSC Ensembl
Outerchr9:133949225..134135935hg18UCSC Ensembl
Outerchr9:131988958..132175668hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3810633
hg1910633
hg1810633
hg1710633
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620931
SamplesNA15510
Known GenesNTNG2, SETX
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)nsv509328
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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