A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508916



Internal ID15476414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47753956..47883831hg38UCSC Ensembl
Outerchr3:47795446..47925321hg19UCSC Ensembl
Outerchr3:47770450..47900325hg18UCSC Ensembl
Outerchr3:47770450..47900325hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3811438
hg1911438
hg1811438
hg1711438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618014, nssv621198, nssv623371, nssv619323
SamplesCHM, NA15510, NA18994, NA10860
Known GenesDHX30, MAP4, MIR1226, SMARCC1
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)nsv508916
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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