A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508667



Internal ID15824694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22417991..22435753hg38UCSC Ensembl
Outerchr12:22570925..22588687hg19UCSC Ensembl
Outerchr12:22462192..22479954hg18UCSC Ensembl
Outerchr12:22462192..22479954hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3817763
hg1917763
hg1817763
hg1717763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622655, nssv617398, nssv620044, nssv618859
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)nsv508667
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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