A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510624



Internal ID15478120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108282522..108307489hg38UCSC Ensembl
Outerchr13:108934870..108959837hg19UCSC Ensembl
Outerchr13:107732871..107757838hg18UCSC Ensembl
Outerchr13:107732871..107757838hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3824968
hg1924968
hg1824968
hg1724968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618908, nssv617410
SamplesCHM, NA10860
Known GenesTNFSF13B
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)nsv510624
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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