A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508665



Internal ID15824692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9393637..9449159hg38UCSC Ensembl
Outerchr12:9546233..9601755hg19UCSC Ensembl
Outerchr12:9437500..9493022hg18UCSC Ensembl
Outerchr12:9437500..9493022hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3855523
hg1955523
hg1855523
hg1755523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622648
SamplesNA18994
Known GenesDDX12P
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)nsv508665
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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