A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510585



Internal ID15826609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50483748..50509647hg38UCSC Ensembl
Outerchr13:51057884..51083783hg19UCSC Ensembl
Outerchr13:49955885..49981784hg18UCSC Ensembl
Outerchr13:49955885..49981784hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3825900
hg1925900
hg1825900
hg1725900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620060, nssv622670, nssv618900, nssv617406
SamplesCHM, NA15510, NA18994, 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)nsv510585
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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