A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509486



Internal ID15825512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125308939..125320697hg38UCSC Ensembl
Outerchr12:125793485..125805243hg19UCSC Ensembl
Outerchr12:124359438..124371196hg18UCSC Ensembl
Outerchr12:124318365..124330123hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383595
hg193595
hg183595
hg173595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620980
SamplesNA15510
Known Genes
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)nsv509486
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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