A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508968



Internal ID15476466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:182974407..183063558hg38UCSC Ensembl
Outerchr3:182692195..182781346hg19UCSC Ensembl
Outerchr3:184174889..184264040hg18UCSC Ensembl
Outerchr3:184174897..184264048hg17UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg383094
hg193094
hg183094
hg173094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619344, nssv620775, nssv623397
SamplesNA18994, NA15510, NA10860
Known GenesDCUN1D1, MCCC1
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)nsv508968
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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