A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508673



Internal ID15480349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48096003..48173355hg38UCSC Ensembl
Outerchr12:48489786..48567138hg19UCSC Ensembl
Outerchr12:46776053..46853405hg18UCSC Ensembl
Outerchr12:46776053..46853405hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3877353
hg1977353
hg1877353
hg1777353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617400
SamplesCHM
Known GenesASB8, MIR6505, PFKM, SENP1
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)nsv508673
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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