A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508933



Internal ID15824959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:75303331..75437015hg38UCSC Ensembl
Outerchr3:75352482..75486166hg19UCSC Ensembl
Outerchr3:75435172..75568856hg18UCSC Ensembl
Outerchr3:75435172..75568856hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3810685
hg1910685
hg1810685
hg1710685
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619332, nssv623375, nssv621209
SamplesNA15510, NA18994, NA10860
Known GenesFAM86DP
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)nsv508933
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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