A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509154



Internal ID15825180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142127967..142143149hg38UCSC Ensembl
Outerchr6:142449104..142464286hg19UCSC Ensembl
Outerchr6:142490797..142505979hg18UCSC Ensembl
Outerchr6:142490797..142505979hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg384821
hg194821
hg184821
hg174821
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618057
SamplesCHM
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)nsv509154
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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