A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623494



Internal ID15822067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167945750..168025463hg38UCSC Ensembl
Outerchr6:168346430..168426143hg19UCSC Ensembl
Outerchr6:168089279..168168992hg18UCSC Ensembl
Outerchr6:168164986..168244699hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383164
hg193164
hg183164
hg173164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509173
Supporting Variants
SamplesNA18994
Known GenesHGC6.3, KIF25, KIF25-AS1, MLLT4
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)nssv623494
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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