A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv506951



Internal ID8794092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103032655..103038655hg38UCSC Ensembl
Outerchr1:103498211..103504211hg19UCSC Ensembl
Outerchr1:103270799..103276799hg18UCSC Ensembl
Outerchr1:103210232..103216232hg17UCSC Ensembl
Cytoband1p21.1
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 Variantsnssv620665, nssv619247, nssv617536, nssv623281
SamplesCHM, NA18994, NA15510, NA10860
Known GenesCOL11A1
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)nsv506951
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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