A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510613



Internal ID15826637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71901807..71916159hg38UCSC Ensembl
Outerchr13:72475945..72490297hg19UCSC Ensembl
Outerchr13:71373946..71388298hg18UCSC Ensembl
Outerchr13:71373946..71388298hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3814353
hg1914353
hg1814353
hg1714353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617408
SamplesCHM
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)nsv510613
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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