A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620775



Internal ID15473441
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
hg383470
hg193470
hg183470
hg173470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508968
Supporting Variants
SamplesNA15510
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)nssv620775
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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