A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511118



Internal ID15478612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13125588..13166624hg38UCSC Ensembl
Outerchr6:13125820..13166856hg19UCSC Ensembl
Outerchr6:13233806..13274842hg18UCSC Ensembl
Outerchr6:13233806..13274842hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3841037
hg1941037
hg1841037
hg1741037
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621587
SamplesNA15510
Known GenesPHACTR1
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)nsv511118
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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