A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509329



Internal ID15476827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132941822..132956074hg38UCSC Ensembl
Outerchr9:135817209..135831461hg19UCSC Ensembl
Outerchr9:134807030..134821282hg18UCSC Ensembl
Outerchr9:132846763..132861015hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg383407
hg193407
hg183407
hg173407
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623570, nssv618078
SamplesCHM, NA18994
Known GenesTSC1
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)nsv509329
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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