A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv506968



Internal ID15823059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190035681..190041681hg38UCSC Ensembl
Outerchr1:190004811..190010811hg19UCSC Ensembl
Outerchr1:188271434..188277434hg18UCSC Ensembl
Outerchr1:186736468..186742468hg17UCSC Ensembl
Cytoband1q31.1
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 Variantsnssv619255, nssv617544, nssv620673
SamplesCHM, NA15510, NA10860
Known Genes
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)nsv506968
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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