A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619454



Internal ID15818035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79876102..79909806hg38UCSC Ensembl
Outerchr6:80585819..80619523hg19UCSC Ensembl
Outerchr6:80642538..80676242hg18UCSC Ensembl
Outerchr6:80642538..80676242hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg384398
hg194398
hg184398
hg174398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509141
Supporting Variants
SamplesNA10860
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)nssv619454
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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