A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509454



Internal ID15825480
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
hg384177
hg194177
hg184177
hg174177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619531
SamplesNA10860
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)nsv509454
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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