A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508026



Internal ID15824053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:101979167..101985167hg38UCSC Ensembl
Outerchr1:102444723..102450723hg19UCSC Ensembl
Outerchr1:102217311..102223311hg18UCSC Ensembl
Outerchr1:102156744..102162744hg17UCSC 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 Variantsnssv618499
SamplesCHM
Known GenesMIR548AI, OLFM3
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)nsv508026
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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