A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508224



Internal ID15824251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68675377..68713825hg38UCSC Ensembl
Outerchr3:68724528..68762976hg19UCSC Ensembl
Outerchr3:68807218..68845666hg18UCSC Ensembl
Outerchr3:68807218..68845666hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3838449
hg1938449
hg1838449
hg1738449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620211, nssv622462, nssv618713, nssv617477
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)nsv508224
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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