A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620680



Internal ID15473346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:233916458..233922458hg38UCSC Ensembl
Outerchr1:234052204..234058204hg19UCSC Ensembl
Outerchr1:232118827..232124827hg18UCSC Ensembl
Outerchr1:230358939..230364939hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv506983
Supporting Variants
SamplesNA15510
Known GenesSLC35F3
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)nssv620680
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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