A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510583



Internal ID15478079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45484456..45586401hg38UCSC Ensembl
Outerchr13:46058591..46160536hg19UCSC Ensembl
Outerchr13:44956592..45058537hg18UCSC Ensembl
Outerchr13:44956592..45058537hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38101946
hg19101946
hg18101946
hg17101946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620059
SamplesNA15510
Known GenesCOG3, FAM194B
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)nsv510583
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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