A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509173



Internal ID15825199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167945750..168093531hg38UCSC Ensembl
Outerchr6:168346430..168494211hg19UCSC Ensembl
Outerchr6:168089279..168237060hg18UCSC Ensembl
Outerchr6:168164986..168312767hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383745
hg193745
hg183745
hg173745
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623494, nssv619465
SamplesNA18994, NA10860
Known GenesFRMD1, HGC6.3, 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)nsv509173
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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