A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509482



Internal ID15476980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120435117..120495113hg38UCSC Ensembl
Outerchr12:120872920..120932916hg19UCSC Ensembl
Outerchr12:119357303..119417299hg18UCSC Ensembl
Outerchr12:119335640..119395636hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383315
hg193315
hg183315
hg173315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620979, nssv623634
SamplesNA18994, NA15510
Known GenesCOX6A1, DYNLL1, DYNLL1-AS1, GATC, SRSF9, TRIAP1
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)nsv509482
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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