A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509304



Internal ID15476802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86991848..87000986hg38UCSC Ensembl
Outerchr9:89606763..89615901hg19UCSC Ensembl
Outerchr9:88796583..88805721hg18UCSC Ensembl
Outerchr9:86836317..86845455hg17UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg383050
hg193050
hg183050
hg173050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620923
SamplesNA15510
Known GenesLOC100506834
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)nsv509304
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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