A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509286



Internal ID15825312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141586467..141784244hg38UCSC Ensembl
Outerchr8:142596567..142865605hg19UCSC Ensembl
Outerchr8:142665749..142863512hg18UCSC Ensembl
Outerchr8:142665749..142863512hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3815303
hg1915303
hg1815303
hg1715303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623550, nssv619539, nssv623551, nssv619540, nssv620915
SamplesNA15510, NA18994, NA10860
Known Genes
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)nsv509286
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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