A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508529



Internal ID15824556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:131257065..131291015hg38UCSC Ensembl
Outerchr8:132269312..132303262hg19UCSC Ensembl
Outerchr8:132338494..132372444hg18UCSC Ensembl
Outerchr8:132338494..132372444hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3833951
hg1933951
hg1833951
hg1733951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620016, nssv617366
SamplesCHM, NA15510
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)nsv508529
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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