A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509172



Internal ID15825198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167757061..167809577hg38UCSC Ensembl
Outerchr6:168157741..168210257hg19UCSC Ensembl
Outerchr6:167900590..167953106hg18UCSC Ensembl
Outerchr6:167976297..168028813hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383334
hg193334
hg183334
hg173334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619464
SamplesNA10860
Known GenesC6orf123
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)nsv509172
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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