A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509248



Internal ID15476746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6921313..6979349hg38UCSC Ensembl
Outerchr8:6778835..6836871hg19UCSC Ensembl
Outerchr8:6766245..6824281hg18UCSC Ensembl
Outerchr8:6766245..6824281hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3821847
hg1921847
hg1821847
hg1721847
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619519, nssv623527
SamplesNA18994, NA10860
Known GenesDEFA1, DEFA10P, DEFA1B, DEFA4, DEFA6, DEFA8P, DEFA9P
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)nsv509248
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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