A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509292



Internal ID15476790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:5469291..5546768hg38UCSC Ensembl
Outerchr9:5469291..5546768hg19UCSC Ensembl
Outerchr9:5459291..5536768hg18UCSC Ensembl
Outerchr9:5459291..5536768hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg383967
hg193967
hg183967
hg173967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619546
SamplesNA10860
Known GenesCD274, PDCD1LG2
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)nsv509292
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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