A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509411



Internal ID15476909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60042589..60074584hg38UCSC Ensembl
Outerchr11:59810062..59842057hg19UCSC Ensembl
Outerchr11:59566638..59598633hg18UCSC Ensembl
Outerchr11:59566638..59598633hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg383258
hg193258
hg183258
hg173258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620789
SamplesNA15510
Known GenesMS4A3, OOSP2
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)nsv509411
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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