A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510752



Internal ID15478248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6851075..6916782hg38UCSC Ensembl
Outerchr19:6851086..6916793hg19UCSC Ensembl
Outerchr19:6802086..6867793hg18UCSC Ensembl
Outerchr19:6802086..6867793hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3865708
hg1965708
hg1865708
hg1765708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620113
SamplesNA15510
Known GenesEMR1, VAV1
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)nsv510752
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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