A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508502



Internal ID15824529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:33833944..33943758hg38UCSC Ensembl
Outerchr8:33691462..33801276hg19UCSC Ensembl
Outerchr8:33811004..33920818hg18UCSC Ensembl
Outerchr8:33811004..33920818hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38109815
hg19109815
hg18109815
hg17109815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620008, nssv618831
SamplesNA15510, 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)nsv508502
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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