A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509440



Internal ID15476938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:101197134..101268342hg38UCSC Ensembl
Outerchr11:101067865..101139073hg19UCSC Ensembl
Outerchr11:100573075..100644283hg18UCSC Ensembl
Outerchr11:100573075..100644283hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
hg173137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620871
SamplesNA15510
Known Genes
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)nsv509440
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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