A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509314



Internal ID15476812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101354608..101368514hg38UCSC Ensembl
Outerchr9:104116890..104130796hg19UCSC Ensembl
Outerchr9:103156711..103170617hg18UCSC Ensembl
Outerchr9:101196445..101210351hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg386281
hg196281
hg186281
hg176281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619557
SamplesNA10860
Known GenesBAAT
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)nsv509314
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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