A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509483



Internal ID15476981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121460013..121517370hg38UCSC Ensembl
Outerchr12:121897816..121955173hg19UCSC Ensembl
Outerchr12:120382199..120439556hg18UCSC Ensembl
Outerchr12:120360536..120417893hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
hg173299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619615
SamplesNA10860
Known GenesKDM2B
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)nsv509483
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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