A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618905



Internal ID15818709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:74191898..74298229hg38UCSC Ensembl
Outerchr13:74766035..74872366hg19UCSC Ensembl
Outerchr13:73664036..73770367hg18UCSC Ensembl
Outerchr13:73664036..73770367hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38106332
hg19106332
hg18106332
hg17106332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510616
Supporting Variants
SamplesNA10860
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)nssv618905
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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