A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510776



Internal ID15826801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:124875..190385hg38UCSC Ensembl
Outerchr20:105516..171026hg19UCSC Ensembl
Outerchr20:53516..119026hg18UCSC Ensembl
Outerchr20:53516..119026hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3865511
hg1965511
hg1865511
hg1765511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620160
SamplesNA15510
Known GenesDEFB126, DEFB127, DEFB128
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)nsv510776
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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