A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510953



Internal ID15826975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168604509..168699815hg38UCSC Ensembl
Outerchr6:169005189..169099946hg19UCSC Ensembl
Outerchr6:168747114..168841871hg18UCSC Ensembl
Outerchr6:168822821..168917578hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3895307
hg1994758
hg1894758
hg1794758
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621595
SamplesNA15510
Known GenesSMOC2
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)nsv510953
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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