A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509385



Internal ID15476883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3633958..3656981hg38UCSC Ensembl
Outerchr11:3655188..3678211hg19UCSC Ensembl
Outerchr11:3611764..3634787hg18UCSC Ensembl
Outerchr11:3611764..3634787hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3819071
hg1919071
hg1819071
hg1719071
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623808, nssv621131
SamplesNA15510, NA18994
Known GenesART1, ART5, TRPC2
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)nsv509385
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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