A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509152



Internal ID15825178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123521010..123539157hg38UCSC Ensembl
Outerchr6:123842155..123860302hg19UCSC Ensembl
Outerchr6:123883854..123902001hg18UCSC Ensembl
Outerchr6:123883854..123902001hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg383382
hg193382
hg183382
hg173382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619457
SamplesNA10860
Known GenesTRDN
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)nsv509152
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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