A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508648



Internal ID15824675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:175087251..175152777hg38UCSC Ensembl
Outerchr1:175056387..175121913hg19UCSC Ensembl
Outerchr1:173323010..173388536hg18UCSC Ensembl
Outerchr1:171788044..171853570hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3865527
hg1965527
hg1865527
hg1765527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618991, nssv622779
SamplesNA18994, NA10860
Known GenesTNN
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)nsv508648
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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