A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507061



Internal ID15823152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200327440..200333440hg38UCSC Ensembl
Outerchr2:201192163..201198163hg19UCSC Ensembl
Outerchr2:200900408..200906408hg18UCSC Ensembl
Outerchr2:201017669..201023669hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621681, nssv622834, nssv620744
SamplesNA15510, NA18994, NA10860
Known GenesSPATS2L
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)nsv507061
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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