A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509465



Internal ID15825491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40475797..40520066hg38UCSC Ensembl
Outerchr12:40869599..40913868hg19UCSC Ensembl
Outerchr12:39155866..39200135hg18UCSC Ensembl
Outerchr12:39155866..39200135hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386156
hg196156
hg186156
hg176156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618092, nssv619605, nssv620966
SamplesCHM, NA15510, NA10860
Known GenesMUC19
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)nsv509465
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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