A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509301



Internal ID15476799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:34703177..34799269hg38UCSC Ensembl
Outerchr9:34703174..34799266hg19UCSC Ensembl
Outerchr9:34693174..34789266hg18UCSC Ensembl
Outerchr9:34693174..34789266hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg385087
hg195087
hg185087
hg175087
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620921
SamplesNA15510
Known GenesCCL21, FAM205A
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)nsv509301
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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