A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv506989



Internal ID15478668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243317231..243323231hg38UCSC Ensembl
Outerchr1:243480533..243486533hg19UCSC Ensembl
Outerchr1:241547156..241553156hg18UCSC Ensembl
Outerchr1:239806574..239812574hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv617553, nssv623298, nssv620682
SamplesCHM, NA18994, NA15510
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)nsv506989
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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