A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509275



Internal ID15825301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100398882..100476506hg38UCSC Ensembl
Outerchr8:101411110..101488734hg19UCSC Ensembl
Outerchr8:101480286..101557910hg18UCSC Ensembl
Outerchr8:101480286..101557910hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg383643
hg193643
hg183643
hg173643
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623544, nssv620912
SamplesNA15510, NA18994
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)nsv509275
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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