A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509472



Internal ID15476970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70606856..70653543hg38UCSC Ensembl
Outerchr12:71000636..71047323hg19UCSC Ensembl
Outerchr12:69286903..69333590hg18UCSC Ensembl
Outerchr12:69286903..69333590hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383435
hg193435
hg183435
hg173435
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620973
SamplesNA15510
Known GenesPTPRB, PTPRR
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)nsv509472
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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