A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623488



Internal ID15822061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157751751..157788630hg38UCSC Ensembl
Outerchr6:158172783..158209662hg19UCSC Ensembl
Outerchr6:158092771..158129650hg18UCSC Ensembl
Outerchr6:158143192..158180071hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386332
hg196332
hg186332
hg176332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509157
Supporting Variants
SamplesNA18994
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)nssv623488
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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