A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509320



Internal ID15825346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121951361..122020419hg38UCSC Ensembl
Outerchr9:124713640..124782698hg19UCSC Ensembl
Outerchr9:123753461..123822519hg18UCSC Ensembl
Outerchr9:121793194..121862252hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383188
hg193188
hg183188
hg173188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620929
SamplesNA15510
Known GenesMIR548AA1, MIR548D1, TTLL11
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)nsv509320
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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