A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620682



Internal ID15473348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243317207..243323207hg38UCSC Ensembl
Outerchr1:243480509..243486509hg19UCSC Ensembl
Outerchr1:241547132..241553132hg18UCSC Ensembl
Outerchr1:239806550..239812550hg17UCSC Ensembl
Cytoband1q43
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 Variantsnsv506989
Supporting Variants
SamplesNA15510
Known GenesSDCCAG8
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)nssv620682
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer