A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509159



Internal ID15476657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160177859..160252549hg38UCSC Ensembl
Outerchr6:160598891..160673581hg19UCSC Ensembl
Outerchr6:160518881..160593571hg18UCSC Ensembl
Outerchr6:160569302..160643992hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386839
hg196839
hg186839
hg176839
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620864, nssv618060
SamplesCHM, NA15510
Known GenesSLC22A2
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)nsv509159
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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