A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509395



Internal ID15476893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:20579204..20666939hg38UCSC Ensembl
Outerchr11:20600750..20688485hg19UCSC Ensembl
Outerchr11:20557326..20645061hg18UCSC Ensembl
Outerchr11:20557326..20645061hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383087
hg193087
hg183087
hg173087
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623864
SamplesNA18994
Known GenesSLC6A5
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)nsv509395
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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